DOCSLIB.ORG

Expanded Carrier Screening

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Expanded Carrier Screening Expanded Carrier Screening Disorder Gene 11-beta-hydroxylase-deficient congenital adrenal CYP11B1 hyperplasia Disorder Gene 17-alpha-hydroxylase-deficient congenital adrenal CYP17A1 Bardet-Biedl syndrome (BBS10-related)X BBS10 hyperplasia Bardet-Biedl syndrome (BBS12-related) BBS12 3-beta-hydroxysteroid dehydrogenase type II HSD3B2 deficiency (Congenital adrenal hyperplasia) Bardet-Biedl syndrome (BBS1-related) BBS1 3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) Bardet-Biedl syndrome (BBS2-related) BBS2 HMGCL lyase deficiency Bartter syndrome type IV (BSND-related) BSND 3-methylglutaconic aciduria type III (Costeff optic OPA3 atrophy) Beta-ketothiolase deficiency ACAT1 Abetalipoproteinemia MTTP Bloom syndrome BLM ACAD9 deficiency ACAD9 Canavan disease ASPA Achromatopsia (CNGB3-related) CNGB3 Carbamoylphosphate synthetase I deficiency CPS1 Acrodermatitis enteropathica SLC39A4 Carnitine palmitoyltransferase I deficiency CPT1A Adenosine deaminase deficiency ADA Carnitine palmitoyltransferase II deficiency CPT2 Aicardi-Goutieres syndrome (SAMHD1-related) SAMHD1 Carpenter syndrome (RAB23-related) RAB23 Cartilage-hair hypoplasia-anauxetic dysplasia Aldosterone synthase deficiency CYP11B2 RMRP spectrum disorders Alpha-mannosidosis MAN2B1 Cerebrotendinous xanthomatosis CYP27A1 Alpha-thalassemia HBA1/ HBA2 Charcot-Marie-Tooth disease (NDRG1-related) NDRG1 Alpha-thalassemia X-linked intellectual disability Charcot-Marie-Tooth disease, X-linked (GJB1- ATRX GJB1 syndrome related) Alport Syndrome (COL4A3-related) COL4A3 Chorea-acanthocytosis VPS13A Alport Syndrome (COL4A4-related) COL4A4 Choroideremia CHM Alport Syndrome, X-linked (COL4A5-related) COL4A5 Chronic granulomatous disease (CYBA-related) CYBA Alström syndrome ALMS1 Chronic granulomatous disease (CYBB-related) CYBB Andermann syndrome FCP SLC12A6 Citrin deficiency SLC25A13 Arginase deficiency ARG1 Citrullinemia type 1 ASS1 Argininosuccinic aciduria ASL Cockayne syndrome type A ERCC8 Aromatase deficiency CYP19A1 Cockayne syndrome type B ERCC6 Asparagine synthetase deficiency ASNS Cohen syndrome VPS13B Combined malonic and methylmalonic aciduria Aspartylglucosaminuria AGA ACSF3 (ACSF3-related) Ataxia with vitamin E deficiency TTPA Combined oxidative phosphorylation deficiency GFM1 Ataxia-telangiectasia ATM (GFM1-related) Autoimmune polyendocrinopathy with Combined oxidative phosphorylation deficiency AIRE TSFM candidiasis and ectodermal dysplasia (TSFM-related) Autosomal recessive deafness 77 (DFNB77) LOXHD1 Combined pituitary hormone deficiency (LHX3- LHX3 related) Autosomal recessive spastic ataxia of FCP SACS Charlevoix-Saguenay (ARSACS) Combined pituitary hormone deficiency (PROP1- PROP1 related) Disorder Gene Disorder Gene Combined SAP Deficiency PSAP Fragile X syndrome FMR1 Congenital amegakaryocytic thrombocytopenia MPL Fumarate hydratase deficiency FH Congenital disorder of glycosylation (ALG6-related) ALG6 Galactokinase deficiency galactosemia GALK1 Congenital disorder of glycosylation Galactosemia (GALT-related) GALT FCP MPI (MPI-related) Gaucher disease GBA Congenital disorder of glycosylation (PMM2- PMM2 related) Gitelman syndrome (SLC12A3-related) SLC12A3 GJB2-related DFNB1 nonsyndromic hearing loss Congenital ichthyosis (TGM1-related) TGM1 GJB2 and deafness Congenital insensitivity to pain with anhidrosis NTRK1 Glutaric acidemia type I GCDH Congenital myasthenic syndrome (CHRNE-related) CHRNE Glutaric acidemia type II (ETFA-related) ETFA Congenital myasthenic syndrome (RAPSN-related) RAPSN Glutaric acidemia type II (ETFDH-related) ETFDH Congenital neutropenia (HAX1-related) HAX1 Glycine encephalopathy (AMT-related) AMT Corneal dystrophy and perceptive deafness SLC4A11 Glycine encephalopathy (GLDC-related) GLDC Cystic fibrosis/ CFTR-related disorders FCP CFTR Glycogen storage disease type Ia G6PC Cystinosis CTNS Glycogen storage disease type Ib SLC37A4 D-bifunctional protein deficiency HSD17B4 Glycogen storage disease type II (Pompe disease) GAA DHDDS-related disorders (including Congenital DHDDS disorder of glycoslylation/ Retinitis pigmentosa 59) Glycogen storage disease type III AGL Glycogen storage disease type IV/ Adult Dihydrolipoamide dehydrogenase deficiency (DLD) DLD GBE1 polyglucosan body disease DMD-related dystrophinopathy (Including Duchenne/Becker muscular dystrophy and DMD Glycogen storage disease type V PYGM Dilated cardiomyopathy) Glycogen storage disease type VII PFKM Dystrophic epidermolysis bullosa (COL7A1-related) COL7A1 GRACILE syndrome/ BCS1L-related disorders Ehlers-Danlos syndrome, dermatosparaxis type ADAMTS2 (including Mitochondrial complex III deficiency, BCS1L Bjornstad syndrome, Leigh syndrome) Ellis-van Creveld syndrome (EVC2-related) EVC2 Guanidinoacetate methyltransferase deficiency GAMT Ellis-van Creveld syndrome (EVC-related) EVC HBB-related hemoglobinopathies (including Beta- HBB Emery-Dreifuss muscular dystrophy (EMD-related) EMD thalassemia and Sickle cell disease) Enhanced S-cone syndrome/ Retinitis Hereditary fructose intolerance ALDOB NR2E3 pigmentosa 37 Hereditary hemochromatosis (HJV-related) HJV Ethylmalonic encephalopathy ETHE1 Hereditary hemochromatosis (TFR2-related) TFR2 Fabry disease GLA Hermansky-Pudlak syndrome (HPS1-related) HPS1 Factor IX deficiency (Hemophilia B) F9 Hermansky-Pudlak syndrome (HPS3-related) HPS3 Familial dysautonomia (IKBKAP) ELP1 Holocarboxylase synthetase deficiency HLCS Familial hypercholesterolemia (LDLRAP1-related) LDLRAP1 Homocystinuria (CBS-related) CBS Familial hypercholesterolemia (LDLR-related) LDLR Homocystinuria due to MTHFR deficiency MTHFR Familial hyperinsulinism (ABCC8-related) ABCC8 Homocystinuria, cobalamin E type MTRR Familial hyperinsulinism (KCNJ11-related) KCNJ11 Hydrolethalus syndrome type 1 HYLS1 Fanconi anemia type A FANCA Hyperornithinemia-hyperammonemia- SLC25A15 Fanconi anemia type C FANCC homocitrullinuria (HHH) syndrome Fanconi anemia type G FANCG Hypohidrotic ectodermal dysplasia (EDA-related) EDA Disorder Gene Disorder Gene Hypophosphatasia ALPL Medium chain acyl-CoA dehydrogenase (MCAD) ACADM deficiency Inclusion body myopathy 2 GNE Megalencephalic leukoencephalopathy with MLC1 Isovaleric acidemia IVD subcortical cysts type 1 Joubert syndrome 2/ TMEM216-related disorders TMEM216 Menkes disease/ ATP7A-related disorders (including Occipital horn syndrome and Distal ATP7A Junctional epidermolysis bullosa (LAMA3-related) LAMA3 hereditary motor neuropathy) Junctional epidermolysis bullosa (LAMB3-related) LAMB3 Metachromatic leukodystrophy (ARSA-related) ARSA Junctional epidermolysis bullosa (LAMC2-related) LAMC2 Methylmalonic acidemia (MMAA-related) MMAA Krabbe disease GALC Methylmalonic acidemia (MMAB-related) MMAB LAMA2-related muscular dystrophy LAMA2 Methylmalonic acidemia (MUT-related) MUT Leber congenital amaurosis 10/ CEP290-related CEP290 Methylmalonic acidemia with homocystinuria, disorders MMACHC cobalamin C type Leber congenital amaurosis 13 RDH12 Methylmalonic acidemia with homocystinuria, MMADHC Leber congenital amaurosis 2 RPE65 cobalamin D type Microphthalmia / clinical anophthalmia (VSX2- Leber congenital amaurosis 5 LCA5 VSX2 related) Leber congenital amaurosis 8/ CRB1-related CRB1 Mitochondrial complex I deficiency/ Leigh disorders NDUFAF5 syndrome (NDUFAF5-related) Leigh syndrome, French Canadian type FCP LRPPRC Mitochondrial complex I deficiency/ Leigh NDUFS6 Lethal congenital contracture syndrome 1 / Lethal syndrome (NDUFS6- related) GLE1 arthrogryposis with anterior horn cell disease Mitochondrial DNA depletion syndrome (MPV17- MPV17 Leukoencephalopathy with vanishing white related) EIF2B5 matter (EIF2B5-related) Mitochondrial myopathy and sideroblastic PUS1 Limb-girdle muscular dystrophy type 2A anemia 1 CAPN3 (calpainopathy) Mitochondrial neurogastrointestinal TYMP Limb-girdle muscular dystrophy type 2B encephalopathy (MNGIE) disease DYSF (dysferlinopathy) MKS1-related disorders MKS1 Limb-girdle muscular dystrophy type 2C SGCG Mucolipidosis type III (GNPTG-related) GNPTG Limb-girdle muscular dystrophy type 2D SGCA Mucolipidosis type IV MCOLN1 Limb-girdle muscular dystrophy type 2E SGCB Mucopolysaccharidosis type I (includes Hurler, IDUA Lipoid congenital adrenal hyperplasia (STAR- Hurler-Scheie, and Scheie syndromes) STAR related) Mucopolysaccharidosis type II (Hunter syndrome) IDS Lipoprotein lipase deficiency LPL Mucolipidosis type II/III (GNPTAB-related) FCP GNPTAB Long chain 3-hydroxyacyl-CoA dehydrogenase HADHA Mucopolysaccharidosis type IIIA (Sanfilippo A (LCHAD) deficiency SGSH syndrome) Lysinuric protein intolerance SLC7A7 Mucopolysaccharidosis type IIIB NAGLU Lysosomal acid lipase deficiency (includes Mucopolysaccharidosis type IIIC (Sanfilippo Wolman disease and Cholesterol ester storage LIPA HGSNAT disease) syndrome)/ Retinitis pigmentosa 73 Major histocompatibility complex class II Mucopolysaccharidosis type IIID (Sanfilippo CIITA GNS deficiency (CIITA-related) syndrome) Mucopolysaccharidosis type IVB (Morquio B Maple syrup urine disease (MSUD) type 1A BCKDHA GLB1 syndrome)/ GM1 gangliosidosis Maple syrup urine disease (MSUD) type 1B BCKDHB Mucopolysaccharidosis type IX HYAL1 Maple syrup urine disease (MSUD) type 2 DBT Disorder Gene Disorder Gene Mucopolysaccharidosis type VI (Maroteaux-Lamy Primary carnitine deficiency SLC22A5 ARSB syndrome) Primary Ciliary Dyskinesia (DNAH5-related) DNAH5 Multiple sulfatase deficiency SUMF1 Primary Ciliary Dyskinesia (DNAI1-related) DNAI1 N-Acetylglutamate synthase deficiency NAGS Primary Ciliary Dyskinesia (DNAI2-related) DNAI2 Nemaline myopathy 2 NEB Primary hyperoxaluria type 1 AGXT Nephrogenic diabetes
Load more

Recommended publications
  • Hyperammonemia in Review: Pathophysiology, Diagnosis, and Treatment
    Pediatr Nephrol DOI 10.1007/s00467-011-1838-5 EDUCATIONAL REVIEW Hyperammonemia in review: pathophysiology, diagnosis, and treatment Ari Auron & Patrick D. Brophy Received: 23 September 2010 /Revised: 9 January 2011 /Accepted: 12 January 2011 # IPNA 2011 Abstract Ammonia is an important source of nitrogen and is the breakdown and catabolism of dietary and bodily proteins, required for amino acid synthesis. It is also necessary for respectively. In healthy individuals, amino acids that are not normal acid-base balance. When present in high concentra- needed for protein synthesis are metabolized in various tions, ammonia is toxic. Endogenous ammonia intoxication chemical pathways, with the rest of the nitrogen waste being can occur when there is impaired capacity of the body to converted to urea. Ammonia is important for normal animal excrete nitrogenous waste, as seen with congenital enzymatic acid-base balance. During exercise, ammonia is produced in deficiencies. A variety of environmental causes and medica- skeletal muscle from deamination of adenosine monophos- tions may also lead to ammonia toxicity. Hyperammonemia phate and amino acid catabolism. In the brain, the latter refers to a clinical condition associated with elevated processes plus the activity of glutamate dehydrogenase ammonia levels manifested by a variety of symptoms and mediate ammonia production. After formation of ammonium signs, including significant central nervous system (CNS) from glutamine, α-ketoglutarate, a byproduct, may be abnormalities. Appropriate and timely management requires a degraded to produce two molecules of bicarbonate, which solid understanding of the fundamental pathophysiology, are then available to buffer acids produced by dietary sources. differential diagnosis, and treatment approaches available.
    [Show full text]
  • Leading Article the Molecular and Genetic Base of Congenital Transport
    Gut 2000;46:585–587 585 Gut: first published as 10.1136/gut.46.5.585 on 1 May 2000. Downloaded from Leading article The molecular and genetic base of congenital transport defects In the past 10 years, several monogenetic abnormalities Given the size of SGLT1 mRNA (2.3 kb), the gene is large, have been identified in families with congenital intestinal with 15 exons, and the introns range between 3 and 2.2 kb. transport defects. Wright and colleagues12 described the A single base change was identified in the entire coding first, which concerns congenital glucose and galactose region of one child, a finding that was confirmed in the malabsorption. Subsequently, altered genes were identified other aZicted sister. This was a homozygous guanine to in partial or total loss of nutrient absorption, including adenine base change at position 92. The patient’s parents cystinuria, lysinuric protein intolerance, Menkes’ disease were heterozygotes for this mutation. In addition, it was (copper malabsorption), bile salt malabsorption, certain found that the 92 mutation was associated with inhibition forms of lipid malabsorption, and congenital chloride diar- of sugar transport by the protein. Since the first familial rhoea. Altered genes may also result in decreased secretion study, genomic DNA has been screened in 31 symptomatic (for chloride in cystic fibrosis) or increased absorption (for GGM patients in 27 kindred from diVerent parts of the sodium in Liddle’s syndrome or copper in Wilson’s world. In all 33 cases the mutation produced truncated or disease)—for general review see Scriver and colleagues,3 mutant proteins.
    [Show full text]
  • The Inherited Metabolic Disorders News
    The Inherited Metabolic Disorders News Summer 2011 Volume 8 Issue 2 From the Editor I hope everyone is enjoying their summer thus far! Our 8th annual Metabolic Family Day and 7th annual Low In this Issue Protein Cooking Demonstration were once again a huge success. See the section ”What’s New” on page 9 for a full report of the events, as well as pictures. ♦ From the Editor…1 As always, your suggestions and stories are welcome. Please contact me by email: [email protected] or telephone 519-685-8453 if you wish to contribute to the ♦ From Dr. Chitra Prasad…1 newsletter. I hope everyone has a safe and happy summer! ♦ Personal Stories… 2 Janice Little ♦ Featured This Issue … 4 From Dr Chitra Prasad ♦ Suzanne’s Corner… 6 Dear Friends, ♦ What’s New… 8 Hope you all are having a wonderful summer. We had a great metabolic family workshop with around 198 registrants this year. This was truly phenomenal. Thanks to all the team members and ♦ Research & Presentations … 13 the families in the planning committee for doing such a fantastic job. I was really touched when one of our young metabolic patients told her parents that she would like to attend the ♦ How to Make a Donation… 14 metabolic family workshop! Please see some of the highlights of the metabolic workshop in the newsletter for those who could not make it. The speeches by our youth (Sadiq, Leanna and Laura) ♦ Contact Information … 15 were appreciated by everyone. Big thanks to Jill Tosswill (our previous social worker) who coordinated their talks.
    [Show full text]
  • Open Full Page
    CCR PEDIATRIC ONCOLOGY SERIES CCR Pediatric Oncology Series Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders Michael F. Walsh1, Vivian Y. Chang2, Wendy K. Kohlmann3, Hamish S. Scott4, Christopher Cunniff5, Franck Bourdeaut6, Jan J. Molenaar7, Christopher C. Porter8, John T. Sandlund9, Sharon E. Plon10, Lisa L. Wang10, and Sharon A. Savage11 Abstract DNA repair syndromes are heterogeneous disorders caused by around the world to discuss and develop cancer surveillance pathogenic variants in genes encoding proteins key in DNA guidelines for children with cancer-prone disorders. Herein, replication and/or the cellular response to DNA damage. The we focus on the more common of the rare DNA repair dis- majority of these syndromes are inherited in an autosomal- orders: ataxia telangiectasia, Bloom syndrome, Fanconi ane- recessive manner, but autosomal-dominant and X-linked reces- mia, dyskeratosis congenita, Nijmegen breakage syndrome, sive disorders also exist. The clinical features of patients with DNA Rothmund–Thomson syndrome, and Xeroderma pigmento- repair syndromes are highly varied and dependent on the under- sum. Dedicated syndrome registries and a combination of lying genetic cause. Notably, all patients have elevated risks of basic science and clinical research have led to important in- syndrome-associated cancers, and many of these cancers present sights into the underlying biology of these disorders. Given the in childhood. Although it is clear that the risk of cancer is rarity of these disorders, it is recommended that centralized increased, there are limited data defining the true incidence of centers of excellence be involved directly or through consulta- cancer and almost no evidence-based approaches to cancer tion in caring for patients with heritable DNA repair syn- surveillance in patients with DNA repair disorders.
    [Show full text]
  • Sphingolipid Metabolism Diseases ⁎ Thomas Kolter, Konrad Sandhoff
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Biochimica et Biophysica Acta 1758 (2006) 2057–2079 www.elsevier.com/locate/bbamem Review Sphingolipid metabolism diseases ⁎ Thomas Kolter, Konrad Sandhoff Kekulé-Institut für Organische Chemie und Biochemie der Universität, Gerhard-Domagk-Str. 1, D-53121 Bonn, Germany Received 23 December 2005; received in revised form 26 April 2006; accepted 23 May 2006 Available online 14 June 2006 Abstract Human diseases caused by alterations in the metabolism of sphingolipids or glycosphingolipids are mainly disorders of the degradation of these compounds. The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs. Most sphingolipidoses are associated with high mortality. Both, the ratio of substrate influx into the lysosomes and the reduced degradative capacity can be addressed by therapeutic approaches. In addition to symptomatic treatments, the current strategies for restoration of the reduced substrate degradation within the lysosome are enzyme replacement therapy (ERT), cell-mediated therapy (CMT) including bone marrow transplantation (BMT) and cell-mediated “cross correction”, gene therapy, and enzyme-enhancement therapy with chemical chaperones. The reduction of substrate influx into the lysosomes can be achieved by substrate reduction therapy. Patients suffering from the attenuated form (type 1) of Gaucher disease and from Fabry disease have been successfully treated with ERT. © 2006 Elsevier B.V. All rights reserved. Keywords: Ceramide; Lysosomal storage disease; Saposin; Sphingolipidose Contents 1. Sphingolipid structure, function and biosynthesis ..........................................2058 1.1.
    [Show full text]
  • CCR PEDIATRIC ONCOLOGY SERIES CCR Pediatric Oncology Series Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions Christopher C
    CCR PEDIATRIC ONCOLOGY SERIES CCR Pediatric Oncology Series Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions Christopher C. Porter1, Todd E. Druley2, Ayelet Erez3, Roland P. Kuiper4, Kenan Onel5, Joshua D. Schiffman6, Kami Wolfe Schneider7, Sarah R. Scollon8, Hamish S. Scott9, Louise C. Strong10, Michael F. Walsh11, and Kim E. Nichols12 Abstract Leukemia, the most common childhood cancer, has long been patients. The panel recognized that for several conditions, recognized to occasionally run in families. The first clues about routine monitoring with complete blood counts and bone the genetic mechanisms underlying familial leukemia emerged marrow evaluations is essential to identify disease evolution in 1990 when Li-Fraumeni syndrome was linked to TP53 muta- and enable early intervention with allogeneic hematopoietic tions. Since this discovery, many other genes associated with stem cell transplantation. However, for others, less intensive hereditary predisposition to leukemia have been identified. surveillance may be considered. Because few reports describ- Although several of these disorders also predispose individuals ing the efficacy of surveillance exist, the recommendations to solid tumors, certain conditions exist in which individuals are derived by this panel are based on opinion, and local expe- specifically at increased risk to develop myelodysplastic syn- rience and will need to be revised over time. The development drome (MDS) and/or acute leukemia. The increasing identifica- of registries and clinical trials is urgently needed to enhance tion of affected individuals and families has raised questions understanding of the natural history of the leukemia-predis- around the efficacy, timing, and optimal methods of surveil- posing conditions, such that these surveillance recommenda- lance.
    [Show full text]
  • Clinical Issues in Neonatal Care
    Linda Ikuta , MN, RN, CCNS, PHN , and Ksenia Zukowsky, PhD, APRN, NNP-BC ❍ Section Editors Clinical Issues in Neonatal Care 2.5 HOURS Continuing Education Deconstructing Black Swans An Introductory Approach to Inherited Metabolic Disorders in the Neonate Nicholas Ah Mew , MD ; Sarah Viall , MSN, PPCNP ; Brian Kirmse , MD ; Kimberly A. Chapman , MD, PhD ABSTRACT Background: Inherited metabolic disorders (IMDs) are individually rare but collectively common disorders that frequently require rapid or urgent therapy. Purpose: This article provides a generalized approach to IMDs, as well as some investigations and safe therapies that may be initiated pending the metabolic consult. Methods/Search Strategy: An overview of the research supporting management strategies is provided. In addition, the newborn metabolic screen is reviewed. Findings/Results: Caring for infants with IMDs can seem difficult because each of the types is rarely seen; however, collectively the management can be seen as similar. Implications for Practice: When an IMD is suspected, a metabolic specialist should be consulted for expert advice regarding appropriate laboratory investigations and management. Because rapid intervention of IMDs before the onset of symptoms may prevent future irreversible sequelae, each abnormal newborn screen must be addressed promptly. Implications for Research: Management can be difficult. Research in this area is limited and can be difficult without multisite coordination since sample sizes of any significance are difficult to achieve. Key Words:
    [Show full text]
  • An Overview of Lesch-Nyhan Syndrome
    An Overview of Lesch-Nyhan Syndrome Abstract Lesch-Nyhan Syndrome is a disorder that strikes the sufferer with debilitating motor and cognitive problems, hyperuricemia, and the urge to do harm to yourself with acts of self-injurious behavior. Research has lead to the discovery of a genetic sequence that results in a defective enzyme, but researchers are still unsure how this leads to the neurological and behavioral problems that are the hallmark of the disorder. Treatments as simple as wearing oven mitts and as complicated as electrical wiring in the brain have been used to help LNS patients, but no cure for the syndrome seems in sight. Lars Sorensen Prof. Stanley Vitello : IDD : 293:522 : Fall 2008 Rutgers University - Graduate School of Education Introduction In the world of developmental and physical disorders none is stranger than Lesch-Nyhan Syndrome. It brings with it a variety of physical ailments but the defining feature of the condition is behavioral. The sufferer seems to be overtaken with an involuntary uncontrollable compulsion to destroy themselves and those around them. In the autumn of 1962, a young mother brought her four year old son to the pediatric emergency room at Johns Hopkins medical center. The boy had previously been diagnosed with cerebral palsy and could not walk or sit up. He was experiencing pain when he urinated. His mother told the resident who was examining the boy that he had “sand in his diaper” (Preston, 2007). The young boy was admitted to the hospital. The resident and an intern began examining the “sand” from the boy's diaper.
    [Show full text]
  • (Hunter Syndrome) Complicated by Autoimmune Hemolytic Anemia
    Bone Marrow Transplantation (2000) 25, 1093–1099 2000 Macmillan Publishers Ltd All rights reserved 0268–3369/00 $15.00 www.nature.com/bmt Case report Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia CA Mullen1,2, JN Thompson3, LA Richard and KW Chan1 Departments of 1Pediatrics and 2Immunology, University of Texas MD Anderson Cancer Center, Houston, Texas; 3Laboratory of Medical Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA Summary: a median of 21 years in type IIB.8 Allogeneic BMT has been used to treat Hunter disease, but remains controversial This report describes unrelated umbilical cord blood since it often fails to reverse CNS impairment9–11 and car- transplantation for a 10-month-old infant boy with ries with it substantial early mortality and morbidity. Here, mucopolysaccharidosis IIB (Hunter syndrome), an X- we report treatment of an infant with mucopolysacch- linked metabolic storage disorder due to deficiency of arisosis type IIB with transplantation of unrelated umbilical iduronate sulfatase. Two years after transplant ෂ55% cord blood cells and its complication by autoimmune hemo- normal plasma enzyme activity has been restored and lytic anemia. abnormal urinary excretion of glycosaminoglycans has nearly completely resolved. The boy has exhibited nor- mal growth and development after transplant. Nine Case report months after transplant he developed severe auto- immune hemolytic anemia and required 14 months of The patient is the only child of a couple with a maternal corticosteroid treatment to prevent clinically significant family history of Hunter syndrome. The mother’s brother anemia. Bone marrow transplantation for Hunter syn- was diagnosed with Hunter syndrome in 1979 at age 3 years drome and post-transplant hemolytic anemia are when he exhibited the physical stigmata of the disorder.
    [Show full text]
  • Menkes Disease in 5 Siblings
    Cu(e) the balancing act: Copper homeostasis explored in 5 siblings Poster with variable clinical course 595 Sonia A Varghese MD MPH MBA and Yael Shiloh-Malawsky MD Objective Methods Case Presentation Discussion v Present a unique variation of v Review literature describing v The graph below depicts the phenotypic spectrum seen in the 5 brothers v ATP7A mutations produce a clinical spectrum phenotype and course in siblings copper transport disorders v Mom is a known carrier of ATP7A mutation v Siblings 1, 2, and 5 follow a more classic with Menkes Disease (MD) v Apply findings to our case of five v There is limited information on the siblings who were not seen at UNC Menke’s course, while siblings 3 and 4 exhibit affected siblings v The 6th sibling is the youngest and is a healthy female infant (not included here) a phenotypic variation Sibling: v This variation is suggestive of a milder form of Background Treatment birth Presentation Exam Diagnostic testing Outcomes Copper Histidine Menkes such as occipital horn syndrome with v Mutations in ATP7A: copper deficiency order D: 16mos residual copper transport function (Menkes disease) O/AD: 1 Infancy/12mos N/A N/A No Brain v Siblings 3 and 4 had improvement with copper v Mutations in ATP7B: copper overload FTT, Seizures, DD hemorrhage supplementation, however declined when off (Wilson disease) O/AD: Infancy/NA D: 13mos supplementation -suggesting residual ATP7A v The amount of residual functioning 2 N/A N/A No FTT, FTT copper transport function copper transport influences disease Meningitis
    [Show full text]
  • Inherited Metabolic Disease
    Inherited metabolic disease Dr Neil W Hopper SRH Areas for discussion • Introduction to IEMs • Presentation • Initial treatment and investigation of IEMs • Hypoglycaemia • Hyperammonaemia • Other presentations • Management of intercurrent illness • Chronic management Inherited Metabolic Diseases • Result from a block to an essential pathway in the body's metabolism. • Huge number of conditions • All rare – very rare (except for one – 1:500) • Presentation can be non-specific so index of suspicion important • Mostly AR inheritance – ask about consanguinity Incidence (W. Midlands) • Amino acid disorders (excluding phenylketonuria) — 18.7 per 100,000 • Phenylketonuria — 8.1 per 100,000 • Organic acidemias — 12.6 per 100,000 • Urea cycle diseases — 4.5 per 100,000 • Glycogen storage diseases — 6.8 per 100,000 • Lysosomal storage diseases — 19.3 per 100,000 • Peroxisomal disorders — 7.4 per 100,000 • Mitochondrial diseases — 20.3 per 100,000 Pathophysiological classification • Disorders that result in toxic accumulation – Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects) – Disorders of carbohydrate intolerance – Lysosomal storage disorders • Disorders of energy production, utilization – Fatty acid oxidation defects – Disorders of carbohydrate utilization, production (ie, glycogen storage disorders, disorders of gluconeogenesis and glycogenolysis) – Mitochondrial disorders – Peroxisomal disorders IMD presentations • ? IMD presentations • Screening – MCAD, PKU • Progressive unexplained neonatal
    [Show full text]
  • Management of Patients with Cardiac Manifestations
    MANAGEMENT OF PATIENTS WITH CARDIAC MANIFESTATIONS KDIGOAleš Linhart First School of Medicine Charles University Prague Czech Republic Disclosure of Interests Speaker´s honoraria, travel reimbursements and consultancy honoraria from: • Genzyme • Shire HGT • Amicus Therapeutics • Actelion KDIGO KDIGO Controversies Conference on Fabry Disease | October 15-17, 2015 | Dublin, Ireland KDIGO HEART FAILURE KDIGO Controversies Conference on Fabry Disease | October 15-17, 2015 | Dublin, Ireland Diffuse LVH on MRI in Fabry disease KDIGO KDIGO Controversies Conference on Fabry Disease | October 15-17, 2015 | Dublin, Ireland Data source: General University Hospital, Prague Cardiac symptoms in AFD LV hypertrophy absent LV hypertrophy present KDIGO KDIGO Controversies Conference on Fabry Disease | October 15-17, 2015 | Dublin, Ireland Linhart et al., European Heart Journal 2007 28(10):1228-1235 Fabry left ventricular function KDIGO KDIGO Controversies Conference on Fabry Disease | October 15-17, 2015 | Dublin, Ireland N-Terminal Pro-BNP in Diagnosis of Cardiac Involvement in AFD Patients 117 patients, (age 48 ± 15 years, 46.2% men) - BNP elevated in 57% KDIGO KDIGO Controversies Conference on Fabry Disease | October 15-17, 2015 | Dublin, Ireland Coats et al., Am J Cardiol. 2013;111:111-7. Diagnosis of heart failure KDIGO ESC GuidelinesKDIGO Controversies for the Conference diagnosis on Fabry and Disease treatment | October of 15-17, acute 2015 and | Dublin, chronic Ireland heart failure 2012. European Heart Journal 2012; 33: 1787–1847 Trials in heart failure with preserved ejection fraction DIG-PEF Digoxin Trend to ↓ hospitalizations ↑ UAP CHARM-PRESERVED Candesartan Trend ↓ hospitalizations I-PRESERVE Irbesartan No effect PEP-CHF PerindoprilKDIGO↓ hospitalizations SENIORS HF-PEF Nebivolol Trend to ↓ Clinical subgroup complications TOP-CAT Spironolactone Effective in subjects recruited in USA and LATAM KDIGO Controversies Conference on Fabry Disease | October 15-17, 2015 | Dublin, Ireland J Am Coll Cardiol.
    [Show full text]