DOCSLIB.ORG

Copyright Why Are My Eyes Yellow?

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Copyright Why Are My Eyes Yellow? What’s Your Diagnosis? Why Are My Eyes Yellow? Jerzy K. Pawlak, MD, MSc, PhD Walter, a 55-year-old gentleman, is concerned about his recent asymptomatic yellowish sclera. He had a few similar episodes as a teenager; otherwise, he is healthy. tion Medical history © ibu t tr ad, h is nlo • Hypertension; no other significant issues g D ow ri l n d e • Two adult children y ia ca us p rc ers nal o e us rso • Non-smoker C m ised r pe m hor y fo • Social drinker (occasional red wine or beer) o A• uStugar: 5o.p8 mmol/L C d. le c r ite ing • Older brother passed away due to oheart athtaicbk in a•s Bilirubin total: 41.0 µmol/L (normal: 2.0 to 18 le pro int early forties a use pr µmol/L; 0.1 to 1mg/dL) S ed and • Medications: Moicardis 8o0rmisg q.di.eawnd Crestor Indirect: 34.0 µmol/L; direct 7.0 µmol/L f uth y, v ot na pla 10 mNg q.d. U dis (normal: 0 to 7 µmol/L; 0 to 0.2 mg/dL) • Lipase, amylase: normal Physical examination • Uric acid: 343 µmol/L (normal) • Hepatitis B virus surface antigen: negative • BP: 128/79 mmHg Hepatitis C virus antibody: negative • Pulse: 72 bpm Hepatitis A virus antibody: positive • Respiratory rate: 18 breaths per minute • CT of abdomen and abdominal ultrasound: No • Weight: 90 kg visible evidence of bilary duct obstruction • Height: 185 cm • No visible abnormalities of the pancreas • Chest is clear • Remainder of liver function is normal • Heart sounds are normal, no murmurs • Peripheral pulses are palpable What is your diagnosis? • No edema • Abdomen is soft; no mass and no organomegaly a. Chronic hepatitis • Neurological examination within normal limit b. Cholecystitis with jaundice c. Gilbert’s syndrome Clinical Investigation d. Liver cirrhosis • CBC count (including reticulocyte count and blood smear): normal Answer: Gilbert’s syndrome • Hemoglobin: 149g/L • White blood cells: 5.0 x 10 9/L The Canadian Journal of Diagnosis / April 2011 45 What’s Your D x? About Gilbert’s syndrome studies show that Gilbert’s syndrome occurs pre - dominately in men. Augustine Gilbert and Pierre Lereboullet first Laboratory Tests described Gilbert’s syndrome, the most common inherited cause of unconjugated hyperbilirubinemia, CBC count (including reticulocyte count and blood in 1901. This autosomal recessive condition is char - smear): This is a useful screening test to exclude acterized by intermittent jaundice, in the absence of hemolysis. Rarely, red blood cell abnormalities hemolysis or underlying liver disease. Gilbert’s syn - resembling variegate porphyria have been described drome is usually diagnosed around puberty, possibly in persons with Gilbert’s syndrome, possibly due to because endogenous steroid hormones produced at the increased hepatocellular bilirubin concentration. that time inhibit bilirubin glucuronidation. Initial Lactate dehydrogenase: Levels are elevated in diagnosis in older patients is usually made when persons with hemolysis, but are normal in those unconjugated hyperbilirubinemia is noted on routine with Gilbert’s syndrome. blood test results, or unmasked by an intercurrent ill - Liver function tests: With the exception of ness or stress. At least 30% of patients are asympto - unconjugated hyperbilirubinemia, standard liver matic, although nonspecific symptoms, such as function test results are normal. However, a familial abdominal cramps, fatigue, and malaise, are com - increase in serum alkaline phosphatase levels has mon. Abdominal symptoms in these patients are been reported in persons with Gilbert’s syndrome. poorly defined. The hyperbilirubinemia is mild, and Imaging studies are not required to confirm a diag - by definition, less than 6 mg/dL; however, most nosis, as the liver is histologically normal, except patients exhibit levels of less than 3 mg/dL. for occasional accumulation of a lipofuscin-like Bilirubin levels may occasionally be normal in as pigment around the terminal hepatic venules. many as one-third of patients. Gilbert’s syndrome Patients with Gilbert’s syndrome should be has long been recognized as being due to underac - clearly informed of its benign nature, and that tivity of the conjugating enzyme system, bilirubin- hyperbilirubinemia is not associated with increased uridine diphosphate glucuronyl transferase (biliru - morbidity; it has an excellent prognosis and is asso - bin-UGT). Bilirubin-UGT is responsible for conju - ciated with normal life expectancy. Not only is gating bilirubin into bilirubin monoglucuronides Gilbert's syndrome not harmful, but it may actually and diglucuronides, and is located primarily in the prolong life by preventing heart attacks. The bad endoplasmic reticulum of hepatocytes. Population LDL cholesterol in your bloodstream must be con - verted to oxidized LDL before it can form plaques in arteries; bilirubin helps to prevent formation of oxidized LDL cholesterol, and therefore helps pre - vent heart attacks. Dx Resource 1. Mukherjee S. 2009 Nov. 19. Gilbert Syndrome [Internet]. Available at: <http://emedicine.medscape.com/article/176822-overview> Share your cases with us! Our mailing address : Our fax number : 955 boul. St-Jean, (514) 695-8554 Suite 306 Pointe-Claire, Quebec Our e-mail address: H9R 5K3 [email protected].
Load more

Recommended publications
  • Clinical and Biochemical Characteristics and Genotype – Phenotype Correlation in Finnish Variegate Porphyria Patients
    European Journal of Human Genetics (2002) 10, 649 – 657 ª 2002 Nature Publishing Group All rights reserved 1018 – 4813/02 $25.00 www.nature.com/ejhg ARTICLE Clinical and biochemical characteristics and genotype – phenotype correlation in Finnish variegate porphyria patients Mikael von und zu Fraunberg*,1, Kaisa Timonen2, Pertti Mustajoki1 and Raili Kauppinen1 1Department of Medicine, Division of Endocrinology, University Central Hospital of Helsinki, Biomedicum Helsinki, Helsinki, Finland; 2Department of Dermatology, University Central Hospital of Helsinki, Biomedicum Helsinki, Helsinki, Finland Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 2001. Fifty-two per cent of patients had experienced clinical symptoms: 40% had photosensitivity, 27% acute attacks and 14% both manifestations. The proportion of patients with acute attacks has decreased dramatically from 38 to 14% in patients diagnosed before and after 1980, whereas the prevalence of skin symptoms had decreased only subtly from 45 to 34%. We have studied the correlation between PPOX genotype and clinical outcome of 90 patients with the three most common Finnish mutations I12T, R152C and 338G?C. The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%). Therefore, the occurrence of photosensitivity was lower in the I12T group compared to the R152C group (P=0.001), whereas no significant differences between the R152C and 338G?C groups could be observed. Biochemical abnormalities were significantly milder suggesting a milder form of the disease in patients with the I12T mutation.
    [Show full text]
  • IS IT AIP Symptoms Checker Summary
    Acute Intermittent Porphyria: Symptoms, Triggers, and Other Factors Common symptoms of acute intermittent porphyria (AIP) AIP can cause many different symptoms that tend to come and go. When someone with AIP has symptoms, the episode is called an AIP attack. A person may have certain symptoms during one attack but different symptoms during another attack. Severe abdominal pain • Severe abdominal pain is the most common symptom of AIP. More than 85% of people have abdominal pain during AIP attacks. • The pain often lasts for hours or days. • The pain tends to begin slowly and become worse. • The pain tends to be all over and not in one small area. • The pain may start in the chest or back and move to the abdomen. • Pain medicines such as Advil® (ibuprofen) or Tylenol® (acetaminophen) usually don’t help much. This is because the pain is caused by nerves. Nausea or vomiting • Nausea or vomiting is common during AIP attacks. • People with AIP often have nausea or vomiting along with abdominal pain. Constipation • Constipation is common during AIP attacks. • Loss of bladder control may go along with constipation. Dark or reddish urine • Urine that turns reddish or dark over time when exposed to light and air is common during AIP attacks. • The change in urine color is due to certain chemicals in the urine during AIP attacks. Muscle weakness • Muscle weakness is common during AIP attacks. • Muscle weakness usually begins in the arms and often in the shoulders. 1 Common symptoms of AIP (cont.) Pain in the arms, legs, back, chest, neck, or head • Abdominal pain is the most common symptom of AIP.
    [Show full text]
  • Porphyria: a Difficult Disease to Diagnose by Marelda Abney RN
    1 Porphyria: A difficult disease to diagnose By Marelda Abney RN, BSN A Manuscript submitted in partial fulfillment ofthe requirement for the degree Master ofNursing Washington State University Intercollegiate College ofNursing Spokane, Washington July 2003 11 To the faculty ofWashington State University: The members ofthe committee appointed to examine the Intercollegiate College of Nursing research requirements and manuscript of MARELDA MARY ABNEY fmd it satisfactory and recommend that it be accepted. ,~~ 5ctl(.~~v~ Lorna Schumann, PhD, FAANP, ARNP ~~ 2u J:~ AhJ5uv Billie Severtsen, PhD, RN _~-/A~-t~£0 Sheila Masteller, MN, BSN, RN 111 Acknowledgements I would like to thank everyone who has supported me in one way or another in completing my manuscript and fulfilling my dream ofbecoming a family nurse practitioner. My deepest gratitude goes out to those who served on my committee for my clinical project. Dr. Billie Severtsen, committee member, whom I fIrst met in my undergraduate program. She was an inspiration then as she is now, in the ways ofmedical ethics and compassionate care. I have been forttmate to have had her be a part ofmy education from the beginning ofmy career through to the end ofthis project. Sheila Masteller, committee nlember and role model. I have been privileged to work with Sheila at Visiting Nurses Association where she is president and an exemplary leader in home health care. Her concern for the welfare ofpatients and staffhas made her the ideal example of leadership. Lorna Schumann, committee member and mentor. Lorna has always been there for me as I struggled down this path. She has listened when I just needed to talk which is a priceless gift.
    [Show full text]
  • Ex Vivo Gene Therapy: a “Cultured” Surgical Approach to Curing Inherited Liver Disease
    Mini Review Open Access J Surg Volume 10 Issue 3 - March 2019 Copyright © All rights are reserved by Joseph B Lillegard DOI: 10.19080/OAJS.2019.10.555788 Ex Vivo Gene Therapy: A “Cultured” Surgical Approach to Curing Inherited Liver Disease Caitlin J VanLith1, Robert A Kaiser1,2, Clara T Nicolas1 and Joseph B Lillegard1,2,3* 1Department of Surgery, Mayo Clinic, Rochester, MN, USA 2Midwest Fetal Care Center, Children’s Hospital of Minnesota, Minneapolis, MN, USA 3Pediatric Surgical Associates, Minneapolis, MN, USA Received: February 22, 2019; Published: March 21, 2019 *Corresponding author: Joseph B Lillegard, Midwest Fetal Care Center, Children’s Hospital of Minnesota, Minneapolis, Minnesota, USA and Mayo Clinic, Rochester, Minnesota, USA Introduction Inborn errors of metabolism (IEMs) are a group of inherited diseases caused by mutations in a single gene [1], many of which transplant remains the only curative option. Between 1988 and 2018, 12.8% of 17,009 pediatric liver transplants in the United States(see were primarily due to an inherited liver). disease. are identified in Table 1. Though individually rare, combined incidence is about 1 in 1,000 live births [2]. While maintenance www.optn.transplant.hrsa.gov/data/ Table 1: List of 35 of the most common Inborn Errors of Metabolism. therapies exist for some of these liver-related diseases, Inborn Error of Metabolism Abbreviation Hereditary Tyrosinemia type 1 HT1 Wilson Disease Wilson Glycogen Storage Disease 1 GSD1 Carnitine Palmitoyl Transferase Deficiency Type 2 CPT2 Glycogen Storage
    [Show full text]
  • Variegate Porphyria with Coexistent Decrease in Porphobilinogen Deaminase Activity
    Acta Derm Venereol 2001; 81: 356–359 CLINICAL REPORT Variegate Porphyria with Coexistent Decrease in Porphobilinogen Deaminase Activity GEORG WEINLICH1, MANFRED O. DOSS2, NORBERT SEPP1 and PETER FRITSCH1 1Department of Dermatology, University of Innsbruck, Innsbruck, Austria and 2Department of Clinical Biochemistry, University of Marburg, Marburg, Germany Variegate porphyria is a rare disease caused by a de ciency of deaminase. Its activity is reduced by about 50%, resulting in protoporphyrinogen oxidase. In most cases, the clinical ndings are varying degrees of overproduction and increased urinary excre- a combination of systemic symptoms similar to those occurring in tion of delta-aminolaevulinic acid (ALA) and PBG. In AIP, acute intermittent porphyria and cutaneous lesions indistinguishable skin changes are absent, but patients suVer from episodic from those of porphyria cutanea tarda. We report on a 24-year- central or peripheral nervous system and/or psychiatric symp- old woman with variegate porphyria who, after intake of lynestrenol, toms, or acute attacks of abdominal pain (2, 4). developed typical cutaneous lesions but no viscero-neurological Variegate porphyria (VP), a rare autosomal-dominant hep- symptoms. The diagnosis was based on the characteristic urinary atic porphyria due to a de ciency of protoporphyrinogen coproporphyrin and faecal protoporphyrin excretion patterns, and (PROTO) oxidase, the related gene (PPOX ) for which has the speci c peak of plasma uorescence at 626 nm in spectro uor- been located to chromosome 1q22-23 (5, 6), is characterized ometry. Biochemical analysis revealed that most of the family by both acute neurological symptoms as in AIP and skin members, though free of clinical symptoms, excrete porphyrin lesions indistinguishable from PCT; it is thus also termed metabolites in urine and stool similar to variegate porphyria, mixed porphyria (2, 7, 8).
    [Show full text]
  • Safe Use of Sodium Valproate
    VOLUME 37 : NUMBER 4 : AUGUST 2014 ARTICLE Safe use of sodium valproate Ahamed Zawab Advanced trainee1 SUMMARY John Carmody Staff specialist1 Valproate is an anticonvulsant drug which is approved for use in epilepsy and bipolar disorder. It Clinical associate professor2 has also been used for neuropathic pain and migraine prophylaxis. 1 Neurology Department Gastrointestinal adverse effects are common, particularly at the start of therapy. Important Wollongong Hospital adverse effects include pancreatitis, hepatitis, weight gain and sedation. There is an increased risk 2 Graduate School of Medicine of fetal abnormalities if valproate is taken in pregnancy. University of Wollongong Measuring concentrations of serum valproate is often unnecessary. They do not correlate closely New South Wales with its therapeutic effects. Key words If withdrawal of valproate is required, this should be done slowly if possible. Rapid cessation may adverse effects, bipolar provoke seizures in patients with epilepsy. disorder, birth defects, epilepsy Introduction Indications Aust Prescr 2014;37:124–7 Sodium valproate (valproate) was first marketed as Although there is clinical experience with valproate in an anticonvulsant almost 50 years ago in France. Its epilepsy, some of its other accepted indications, such indications have expanded and it is now the most as migraine prophylaxis, have not been approved by prescribed antiepileptic drug worldwide.1 However, it the Therapeutic Goods Administration. has many potential adverse effects. Epilepsy Pharmacology Valproate is a broad spectrum antiepileptic drug and Valproate is available in tablet (immediate-release or is used to treat either generalised or focal seizures. This article has a continuing 4 5-7 professional development enteric coated), syrup and intravenous formulations.
    [Show full text]
  • Demystification of Chester Porphyria: a Nonsense Mutation in the Porphobilinogen Deaminase Gene
    Physiol. Res. 55 (Suppl. 2): S137-S144, 2006 Demystification of Chester Porphyria: A Nonsense Mutation in the Porphobilinogen Deaminase Gene *P. POBLETE-GUTIÉRREZ1, *T. WIEDERHOLT2, 3, A. MARTINEZ-MIR4, H. F. MERK2, J. M. CONNOR5, A. M. CHRISTIANO4, 6, J. FRANK1,2,3 1Department of Dermatology, University Hospital Maastricht, The Netherlands, 2Department of Dermatology and Allergology and 3Porphyria Center, University Hospital of the RWTH Aachen, Germany, 4Department of Dermatology, Columbia University, New York, NY, USA, 5Institute of Medical Genetics, Yorkhill Hospitals, Glasgow, Scotland, 6Department of Genetics and Develop- ment, Columbia University, New York, NY, USA Received October 4, 2005 Accepted March 24, 2006 Summary The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported. Traditionally, the diagnosis of porphyria is made on the basis of clinical symptoms, characteristic biochemical findings, and specific enzyme assays. In some cases however, these diagnostic tools reveal overlapping findings, indicating the existence of dual porphyrias with two enzymes of heme biosynthesis being deficient simultane- ously. Recently, it was reported that the so-called Chester porphyria shows features of both variegate porphyria and acute intermittent porphyria. Linkage analysis revealed a novel chromosomal locus on chromosome 11 for the underly- ing genetic defect in this disease, suggesting that a gene that does not encode one of the enzymes of heme biosynthesis might be involved in the pathogenesis of the porphyrias. After excluding candidate genes within the linkage interval, we identified a nonsense mutation in the porphobilinogen deaminase gene on chromosome 11q23.3, which harbors the mutations causing acute intermittent porphyria, as the underlying genetic defect in Chester porphyria.
    [Show full text]
  • A High Urinary Urobilinogen / Serum Total Bilirubin Ratio Reported in Abdominal Pain Patients Can Indicate Acute Hepatic Porphyria
    A High Urinary Urobilinogen / Serum Total Bilirubin Ratio Reported in Abdominal Pain Patients Can Indicate Acute Hepatic Porphyria Chengyuan Song Shandong University Qilu Hospital Shaowei Sang Shandong University Qilu Hospital Yuan Liu ( [email protected] ) Shandong University Qilu Hospital https://orcid.org/0000-0003-4991-552X Research Keywords: acute hepatic porphyria, urinary urobilinogen, serum total bilirubin Posted Date: June 14th, 2021 DOI: https://doi.org/10.21203/rs.3.rs-587707/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/10 Abstract Background: Due to its variable symptoms and nonspecic laboratory test results during routine examinations, acute hepatic porphyria (AHP) has always been a diagnostic dilemma for physicians. Misdiagnoses, missed diagnoses, and inappropriate treatments are very common. Correct diagnosis mainly depends on the detection of a high urinary porphobilinogen (PBG) level, which is not a routine test performed in the clinic and highly relies on the physician’s awareness of AHP. Therefore, identifying a more convenient indicator for use during routine examinations is required to improve the diagnosis of AHP. Results: In the present study, we retrospectively analyzed laboratory examinations in 12 AHP patients and 100 patients with abdominal pain of other causes as the control groups between 2015 and 2021. Compared with the control groups, AHP patients showed a signicantly higher urinary urobilinogen level during the urinalysis (P < 0.05). However, we showed that the higher urobilinogen level was caused by a false- positive result due to a higher level of urine PBG in the AHP patients. Hence, we used serum total bilirubin, an upstream substance of urinary urobilinogen synthesis, for calibration.
    [Show full text]
  • Photodermatoses in Children
    Review article Photodermatoses in children Siti Nurani Fauziah, Wresti Indriatmi, Lili Legiawati Department of Dermatology & Venereology Faculty of Medicine, Universitas Indonesia, dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia E-mail: [email protected] Abstract Photodermatoses cover the skin’s abnormal reactions to sunlight, usually to its ultraviolet (UV) component or visible light. Etiologically, photodermatoses can be classified into 4 categories: (1) immunologically mediated photodermatoses (idiopathic photodermatoses); (2) drug- or chemical-induced photosensitivity; (3) hereditary photodermatoses; and (4) photoaggravated dermatoses. The incidence of photodermatoses in the pediatric population is much lower than in adults. Polymorphous light eruption (PMLE) is the most common form of photodermatoses in children, followed by erythropoietic protoporphyria. Early diagnosis and investigations should be performed to avoid long-term complications. Photoprotection is the mainstay of photodermatoses management, including use of physical protection and sunscreen. Keywords: children, photodermatoses, photoprotection, polymorphous light eruption. Background usually on the face, neck, extensor forearms, and hands. Early recognition of symptoms and early Photodermatoses is a term used to describe diagnosis is important to prevent complications 1 abnormal reactions of the skin to light, especially due to inadequate photoprotection. to ultraviolet (UV) radiation or visible light.1-3 Incidence of photodermatoses in children is lower This
    [Show full text]
  • Biochemical Differentiation of the Porphyrias
    Clinical Biochemistry, Vol. 32, No. 8, 609–619, 1999 Copyright © 1999 The Canadian Society of Clinical Chemists Printed in the USA. All rights reserved 0009-9120/99/$–see front matter PII S0009-9120(99)00067-3 Biochemical Differentiation of the Porphyrias J. THOMAS HINDMARSH,1,2 LINDA OLIVERAS,1 and DONALD C. GREENWAY1,2 1Division of Biochemistry, The Ottawa Hospital, and the 2Department of Pathology and Laboratory Medicine, University of Ottawa, 501 Smyth Road, Ottawa, Ontario K1H 8L6, Canada Objectives: To differentiate the porphyrias by clinical and biochem- vals for urine, fecal, and blood porphyrins and their ical methods. precursors in the various porphyrias and in normal Design and methods: We describe levels of blood, urine, and fecal porphyrins and their precursors in the porphyrias and present an subjects and have devised an algorithm for investi- algorithm for their biochemical differentiation. Diagnoses were es- gation of these diseases. Except for Porphyria Cuta- tablished using clinical and biochemical data. Porphyrin analyses nea Tarda (PCT), our numbers of patients in each were performed by high performance liquid chromatography. category of porphyria are small and therefore our Results and conclusions: Plasma and urine porphyrin patterns reference ranges for these should be considered were useful for diagnosis of porphyria cutanea tarda, but not the acute porphyrias. Erythropoietic protoporphyria was confirmed by approximate. erythrocyte protoporphyrin assay and erythrocyte fluorescence. Acute intermittent porphyria was diagnosed by increases in urine Materials and methods delta-aminolevulinic acid and porphobilinogen and confirmed by reduced erythrocyte porphobilinogen deaminase activity and nor- REAGENTS AND CHEMICALS mal or near-normal stool porphyrins.
    [Show full text]
  • Conversion of Amino Acids to Specialized Products
    Conversion of Amino Acids to Specialized Products First Lecture Second lecture Fourth Lecture Third Lecture Structure of porphyrins Porphyrins are cyclic compounds that readily bind metal ions (metalloporphyrins)—usually Fe2+ or Fe3+. Porphyrins vary in the nature of the side chains that are attached to each of the four pyrrole rings. - - Uroporphyrin contains acetate (–CH2–COO )and propionate (–CH2–CH2–COO ) side chains; Coproporphyrin contains methyl (–CH3) and propionate groups; Protoporphyrin IX (and heme) contains vinyl (–CH=CH2), methyl, and propionate groups Structure of Porphyrins Distribution of side chains: The side chains of porphyrins can be ordered around the tetrapyrrole nucleus in four different ways, designated by Roman numerals I to IV. Only Type III porphyrins, which contain an asymmetric substitution on ring D are physiologically important in humans. Physiologically important In humans Heme methyl vinyl 1) Four Pyrrole rings linked together with methenyle bridges; 2) Three types of side chains are attached to the rings; arrangement of these side chains determines the activity; 3) Asymmetric molecule 3) Porphyrins bind metal ions to form metalloporphyrins. propionyl Heme is a prosthetic group for hemoglobin, myoglobin, the cytochromes, catalase and trptophan pyrrolase Biosynthesis of Heme The major sites of heme biosynthesis are the liver, which synthesizes a number of heme proteins (particularly cytochrome P450), and the erythrocyte-producing cells of the bone marrow, which are active in hemoglobin synthesis. Heme synthesis occurs in all cells due to the requirement for heme as a prosthetic group on enzymes and electron transport chain. The initial reaction and the last three steps in the formation of porphyrins occur in mitochondria, whereas the intermediate steps of the biosynthetic pathway occur in the cytosol.
    [Show full text]
  • The Little Imitator-Porphyria: a Neuropsychiatric Disorder
    Journal ofNeurology, Neurosurgery, and Psychiatry 1997;62:319-328 319 REVIEW J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.62.4.319 on 1 April 1997. Downloaded from The little imitator-porphyria: a neuropsychiatric disorder Helen L Crimlisk Abstract Porphyria is derived from the Greek word por- Three common subtypes of porphyria phuros meaning purple. Protoporphyrin IX is give rise to neuropsychiatric disorders; the biologically active substance, an important acute intermittent porphyria, variegate feature of which is its metal binding capacity. porphyria, and coproporphyria. The sec- Both chlorophyll and haem are metallopor- ond two also give rise to cutaneous symp- phyrins and are involved in the processes of toms. Neurological or psychiatric energy capture and utilisation in animals and symptoms occur in most acute attacks, plants. The description of the porphyrins by and may mimc many other disorders. Nobel laureate Hans Fischer' in 1930 as: The diagnosis may be missed because it is "The compounds which make grass green not even considered or because of techni- and blood red." cal problems, such as sample collection indicates the central position of these sub- and storage, and interpretation of results. stances in the biological sciences. A negative screening test does not exclude The porphyrias are a heterogeneous group the diagnosis. Porphyria may be overrep- of overproduction diseases, resulting from resented in psychiatric populations, but genetically determined, partial deficiencies in the lack of control groups makes this haem biosynthetic enzymes. Their manifesta- Department of uncertain. The management of patients tions are broad and their relevance in neu- Neuropsychiatry, with porphyria and psychiatric symptoms ropsychiatric disorders may sometimes be Institute ofNeurology, causes considerable Queen Square, problems.
    [Show full text]