DOCSLIB.ORG

Maple Syrup Urine Disease (MSUD) Metabolism 3

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Maple Syrup Urine Disease (MSUD) Metabolism 3 The Objectives [lecture 4] Inborn Errors of 1. Phenylketonuria (PKU) Amino Acid 2. Maple Syrup Urine Disease (MSUD) Metabolism 3. Albinism 4. Homocyteinuria 5. Alkaptonuria Red = Green = Blue = Import- addition explain ant notes Med432 Biochemistry Team / Done By : Rehab Mosleh ,Ethar Alqarni and Haifa Aldabjan Reviewed by : Abdullah alatawi , Saleh alneghamishi Med432 Biochemistry Team Inborn Errors of Amino Acid Metabolism Maple Syrup Urine Phenylketonuria Disease Albinism Homocyteinuria Alkaptonuria Classical phenylalanine Deficiency of branched chain Cystathionine β-synthase Tyrosinase deficiency hydroxylase deficiency α-ketoacid dehydrogenase deficiency Homogentisic acid oxidase Atypical Tetrahydrobiopterin deficiency Med432 Biochemistry Team Inborn Errors of Amino Acid Metabolism Caused by enzyme loss or deficiency due to gene loss or gene mutation Normal amino acid metabolism Cofactors Enzyme + Substrate Product But if there are any deficiency of either enzyme or cofactor There will be abnormality of amino acid metabolism There are five examples for these abnormality: 1. Phenylketonuria (PKU) 2. Maple Syrup Urine Disease (MSUD) 3. Albinism 4. Homocyteinuria 5. Alkaptonuria Amino acid phenylalanine Med432 Biochemistry Team involved Phenylketonuria (PKU) types Cause Due to deficiency of phenylalanine hydroxylase enzyme Classic PKU Atypical hyperphenylalaninemia Duo to deficiency of Duo to deficiency of cofactor enzyme Due to deficiency of BH4 Due to deficiency of Conversion of Phe to Tyr requires 1)CNS symptoms: phenylalanine hydroxylase symptoms tetrahydrobiopterin (BH4) Hence Phenylalanine is Mental retardation, failure to walk or Even if phenylalanine hydroxylase level accumulated talk, seizures, etc. is normal, the enzyme will not function 2)Hypopigmentation without BH4 Deficiency of melanin deficiency of BH4Caused by the Hydroxylation of tyrosine by deficiency of: tyrosinase is inhibited by high phe Dihydropteridine reductase conc. Dihydrobiopterin synthetase Carbinolamine dehydratase diagnosis Prenatal diagnosis is done by detecting gene mutation in fetus Neonatal diagnosis in infants is done by measuring blood phe levels phe Phenylalanine hydroxylase * treatment Life long phe-restricted diet *not imp just memorize the names Tyrosine so there will be no tyrosine Med432 Biochemistry Team Elevated phenylalanine in tissues, Characteristics plasma, urine of PKU Gives urine a mousy odor In the absence or In the absence or deficiency of Because of > deficiency of BH 4 phenylalanine hydroxylase Phe is degraded to> 1& 2&3 Phe will not be converted to Tyr No or less melanin Light skin in PKU patients Melanin 1 Melanin Tyr will not be converted to biosynthesis catecholamine (neurotransmitter) from tyrosine Synthesis of catecholamines 2 requires BH4 serotonin Trp will not be converted to serotonin (a 3 neurotransmitter) as it requires BH4 biosynthesis tryptophan from Tryptophan hydroxylase tryptophan Which required BH4 serotonin OTHER PIC s<is not imp Just look at it Med432 Biochemistry Team Disease Maple syrup urine disease Albinism Enzyme Branched chain α-ketoacid dehydrogenase Tyrosinase Amino acids involved Isoleucine, leucine and valine Tyrosine Tyrosine is involved in melanin production Place of In blood __ accumulation symptoms • mental retardation. • Hair and skin appear white. • physical disability . • Vision defects . • metabolic acidosis. • Photophobia. Clinical features Maple syrup odor . Melanin is absent types 1. Classic type: Most common, due to little or no activity __ of a-ketoacid dehydrogenase. 2. Intermediate and intermittent forms. 3. Thiamin-responsive form. treatment Limited intake of leucine, isoleucine and valine __ Med432 Biochemistry Team Disease Homocystinuria Alkaptonuria Enzyme Cystathionine β-synthase Homogentisic acid oxidase Amino acids involved Methionine Tyrosine and phenylalanine Place of accumulation In plasma and urine . in tissue and cartilage symptoms • Skeletal abnormalities. • Usually asymptomatic until adulthood • Osteoporosis. • Arthritis may will be seen • mental retardation. • displacement of eye lens. *is also associated with: 1. Neural tube defect (spina bifida) 2. Vascular disease (atherosclerosis) 3. Heart disease. Clinical features • High plasma and urine levels of homocysteine. • urine is oxidized to dark pigment over time. • Has a risk factor for atherosclerosis and heart disease. • Black pigmentation of cartilage, tissue. treatment 1. Oral administration of vitamins B6, B12 and folate. 1. Restricted intake of tyrosine. 2. Methionine-restricted diet 2. phenylalanine reduces homogentisic acid and dark pigmentation. Med432 Biochemistry Team 1 2 3 4 Med432 Biochemistry Team disease Defect Due to 1 Valine, Isoleucine,Leucine and deficiency of branched chain a-keto MSUD their keto acids accumulated. acid dehydrogenase leads to. Explanation 2 Absents of Melanin. Deficiency of tyrosinase. Albinism *Melanin biosynthesis from tyrosine. 3 Methionine and its Deficiency of cystathione b- Homocystinuria metabolites are synthase . accumulated . (homocystinuria / homocysteinemia) 4 Homogentisic aciduria (elevated deficiency of homogentisic acid Alkaptonuria homogentisic acid in urine) oxidase 1- In a patient with MAPLE SYRUP URNIE DISEASE there is a deficiency of enzyme … : A ) Tyrosinase B) Branched chain α-ketoacid dehydrogenase C) phenylalanine hydroxylase enzyme D) Homogentisic acid oxidase 2- The most obvious clinical feature in ALBINISM is : A) Tissue damage. B) Osteoporosis. C) Mental retardation. D) Melanin absence. Qs 3- The patient with HOMOCYSTINURIA may present with : A) Displacement of eye lens . B) Seizures . C) Metabolic acidosis . D) Vision defects . A --- 4- The doctor can treat Phenylketonuria (PKU) with : 4 A --- A) Life long phe-restricted diet. 3 D --- B) Intake of vitamin B6 . 2 B --- C) Intake of tyrosine . 1 Answers D) Intake of leucine. If you find any mistake, please contact us:) [email protected] .
Load more

Recommended publications
  • Natural Skin‑Whitening Compounds for the Treatment of Melanogenesis (Review)
    EXPERIMENTAL AND THERAPEUTIC MEDICINE 20: 173-185, 2020 Natural skin‑whitening compounds for the treatment of melanogenesis (Review) WENHUI QIAN1,2, WENYA LIU1, DONG ZHU2, YANLI CAO1, ANFU TANG1, GUANGMING GONG1 and HUA SU1 1Department of Pharmaceutics, Jinling Hospital, Nanjing University School of Medicine; 2School of Pharmacy, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210002, P.R. China Received June 14, 2019; Accepted March 17, 2020 DOI: 10.3892/etm.2020.8687 Abstract. Melanogenesis is the process for the production of skin-whitening agents, boosted by markets in Asian countries, melanin, which is the primary cause of human skin pigmenta- especially those in China, India and Japan, is increasing tion. Skin-whitening agents are commercially available for annually (1). Skin color is influenced by a number of intrinsic those who wish to have a lighter skin complexions. To date, factors, including skin types and genetic background, and although numerous natural compounds have been proposed extrinsic factors, including the degree of sunlight exposure to alleviate hyperpigmentation, insufficient attention has and environmental pollution (2-4). Skin color is determined by been focused on potential natural skin-whitening agents and the quantity of melanosomes and their extent of dispersion in their mechanism of action from the perspective of compound the skin (5). Under physiological conditions, pigmentation can classification. In the present article, the synthetic process of protect the skin against harmful UV injury. However, exces- melanogenesis and associated core signaling pathways are sive generation of melanin can result in extensive aesthetic summarized. An overview of the list of natural skin-lightening problems, including melasma, pigmentation of ephelides and agents, along with their compound classifications, is also post‑inflammatory hyperpigmentation (1,6).
    [Show full text]
  • Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients with and Without a 16–Base Pair Duplication in the HPS1 Gene
    STUDY Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients With and Without a 16–Base Pair Duplication in the HPS1 Gene Jorge Toro, MD; Maria Turner, MD; William A. Gahl, MD, PhD Background: Hermansky-Pudlak syndrome (HPS) con- without the duplication were non–Puerto Rican except sists of oculocutaneous albinism, a platelet storage pool de- 4 from central Puerto Rico. ficiency, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS from northwest Puerto Rico are homozy- Results: Both patients homozygous for the 16-bp du- gous for a 16–base pair (bp) duplication in exon 15 of HPS1, plication and patients without the duplication dis- a gene on chromosome 10q23 known to cause the disorder. played skin color ranging from white to light brown. Pa- tients with the duplication, as well as those lacking the Objective: To determine the dermatologic findings of duplication, had hair color ranging from white to brown patients with HPS. and eye color ranging from blue to brown. New findings in both groups of patients with HPS were melanocytic Design: Survey of inpatients with HPS by physical ex- nevi with dysplastic features, acanthosis nigricans–like amination. lesions in the axilla and neck, and trichomegaly. Eighty percent of patients with the duplication exhibited fea- Setting: National Institutes of Health Clinical Center, tures of solar damage, including multiple freckles, stel- Bethesda, Md (a tertiary referral hospital). late lentigines, actinic keratoses, and, occasionally, basal cell or squamous cell carcinomas. Only 8% of patients Patients: Sixty-five patients aged 3 to 54 years were di- lacking the 16-bp duplication displayed these findings.
    [Show full text]
  • Aberrant Colourations in Wild Snakes: Case Study in Neotropical Taxa and a Review of Terminology
    SALAMANDRA 57(1): 124–138 Claudio Borteiro et al. SALAMANDRA 15 February 2021 ISSN 0036–3375 German Journal of Herpetology Aberrant colourations in wild snakes: case study in Neotropical taxa and a review of terminology Claudio Borteiro1, Arthur Diesel Abegg2,3, Fabrício Hirouki Oda4, Darío Cardozo5, Francisco Kolenc1, Ignacio Etchandy6, Irasema Bisaiz6, Carlos Prigioni1 & Diego Baldo5 1) Sección Herpetología, Museo Nacional de Historia Natural, Miguelete 1825, Montevideo 11800, Uruguay 2) Instituto Butantan, Laboratório Especial de Coleções Zoológicas, Avenida Vital Brasil, 1500, Butantã, CEP 05503-900 São Paulo, SP, Brazil 3) Universidade de São Paulo, Instituto de Biociências, Departamento de Zoologia, Programa de Pós-Graduação em Zoologia, Travessa 14, Rua do Matão, 321, Cidade Universitária, 05508-090, São Paulo, SP, Brazil 4) Universidade Regional do Cariri, Departamento de Química Biológica, Programa de Pós-graduação em Bioprospecção Molecular, Rua Coronel Antônio Luiz 1161, Pimenta, Crato, Ceará 63105-000, CE, Brazil 5) Laboratorio de Genética Evolutiva, Instituto de Biología Subtropical (CONICET-UNaM), Facultad de Ciencias Exactas Químicas y Naturales, Universidad Nacional de Misiones, Felix de Azara 1552, CP 3300, Posadas, Misiones, Argentina 6) Alternatus Uruguay, Ruta 37, km 1.4, Piriápolis, Uruguay Corresponding author: Claudio Borteiro, e-mail: [email protected] Manuscript received: 2 April 2020 Accepted: 18 August 2020 by Arne Schulze Abstract. The criteria used by previous authors to define colour aberrancies of snakes, particularly albinism, are varied and terms have widely been used ambiguously. The aim of this work was to review genetically based aberrant colour morphs of wild Neotropical snakes and associated terminology. We compiled a total of 115 cases of conspicuous defective expressions of pigmentations in snakes, including melanin (black/brown colour), xanthins (yellow), and erythrins (red), which in- volved 47 species of Aniliidae, Boidae, Colubridae, Elapidae, Leptotyphlopidae, Typhlopidae, and Viperidae.
    [Show full text]
  • Colorado Birds | Summer 2021 | Vol
    PROFESSOR’S CORNER Learning to Discern Color Aberration in Birds By Christy Carello Professor of Biology at The Metropolitan State University of Denver Melanin, the pigment that results in the black coloration of the flight feathers in this American White Pelican, also results in stronger feathers. Photo by Peter Burke. 148 Colorado Birds | Summer 2021 | Vol. 55 No.3 Colorado Birds | Summer 2021 | Vol. 55 No.3 149 THE PROFESSOR’S CORNER IS A NEW COLORADO BIRDS FEATURE THAT WILL EXPLORE A WIDE RANGE OF ORNITHOLOGICAL TOPICS FROM HISTORY AND CLASSIFICATION TO PHYSIOLOGY, REPRODUCTION, MIGRATION BEHAVIOR AND BEYOND. AS THE TITLE SUGGESTS, ARTICLES WILL BE AUTHORED BY ORNI- THOLOGISTS, BIOLOGISTS AND OTHER ACADEMICS. Did I just see an albino bird? Probably not. Whenever humans, melanin results in our skin and hair color. we see an all white or partially white bird, “albino” In birds, tiny melanin granules are deposited in is often the first word that comes to mind. In feathers from the feather follicles, resulting in a fact, albinism is an extreme and somewhat rare range of colors from dark black to reddish-brown condition caused by a genetic mutation that or even a pale yellow appearance. Have you ever completely restricts melanin throughout a bird’s wondered why so many mostly white birds, such body. Many birders have learned to substitute the as the American White Pelican, Ring-billed Gull and word “leucistic” for “albino,” which is certainly a Swallow-tailed Kite, have black wing feathers? This step in the right direction, however, there are many is due to melanin.
    [Show full text]
  • Amino Acid Disorders
    471 Review Article on Inborn Errors of Metabolism Page 1 of 10 Amino acid disorders Ermal Aliu1, Shibani Kanungo2, Georgianne L. Arnold1 1Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; 2Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA Contributions: (I) Conception and design: S Kanungo, GL Arnold; (II) Administrative support: S Kanungo; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: E Aliu, GL Arnold; (V) Data analysis and interpretation: None; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Georgianne L. Arnold, MD. UPMC Children’s Hospital of Pittsburgh, 4401 Penn Avenue, Suite 1200, Pittsburgh, PA 15224, USA. Email: [email protected]. Abstract: Amino acids serve as key building blocks and as an energy source for cell repair, survival, regeneration and growth. Each amino acid has an amino group, a carboxylic acid, and a unique carbon structure. Human utilize 21 different amino acids; most of these can be synthesized endogenously, but 9 are “essential” in that they must be ingested in the diet. In addition to their role as building blocks of protein, amino acids are key energy source (ketogenic, glucogenic or both), are building blocks of Kreb’s (aka TCA) cycle intermediates and other metabolites, and recycled as needed. A metabolic defect in the metabolism of tyrosine (homogentisic acid oxidase deficiency) historically defined Archibald Garrod as key architect in linking biochemistry, genetics and medicine and creation of the term ‘Inborn Error of Metabolism’ (IEM). The key concept of a single gene defect leading to a single enzyme dysfunction, leading to “intoxication” with a precursor in the metabolic pathway was vital to linking genetics and metabolic disorders and developing screening and treatment approaches as described in other chapters in this issue.
    [Show full text]
  • Albinism: Modern Molecular Diagnosis
    British Journal of Ophthalmology 1998;82:189–195 189 Br J Ophthalmol: first published as 10.1136/bjo.82.2.189 on 1 February 1998. Downloaded from PERSPECTIVE Albinism: modern molecular diagnosis Susan M Carden, Raymond E Boissy, Pamela J Schoettker, William V Good Albinism is no longer a clinical diagnosis. The past cytes and into which melanin is confined. In the skin, the classification of albinism was predicated on phenotypic melanosome is later transferred from the melanocyte to the expression, but now molecular biology has defined the surrounding keratinocytes. The melanosome precursor condition more accurately. With recent advances in arises from the smooth endoplasmic reticulum. Tyrosinase molecular research, it is possible to diagnose many of the and other enzymes regulating melanin synthesis are various albinism conditions on the basis of genetic produced in the rough endoplasmic reticulum, matured in causation. This article seeks to review the current state of the Golgi apparatus, and translocated to the melanosome knowledge of albinism and associated disorders of hypo- where melanin biosynthesis occurs. pigmentation. Tyrosinase is a copper containing, monophenol, mono- The term albinism (L albus, white) encompasses geneti- oxygenase enzyme that has long been known to have a cally determined diseases that involve a disorder of the critical role in melanogenesis.5 It catalyses three reactions melanin system. Each condition of albinism is due to a in the melanin pathway. The rate limiting step is the genetic mutation on a diVerent chromosome. The cutane- hydroxylation of tyrosine into dihydroxyphenylalanine ous hypopigmentation in albinism ranges from complete (DOPA) by tyrosinase, but tyrosinase does not act alone.
    [Show full text]
  • Analysis of Ocular Hypopigmentation in Rab38cht/Cht Mice
    ARTICLES Analysis of Ocular Hypopigmentation in Rab38cht/cht Mice Brian P. Brooks,1,2,3 Denise M. Larson,2,3 Chi-Chao Chan,1 Sten Kjellstrom,4 Richard S. Smith,5,6 Mary A. Crawford,1 Lynn Lamoreux,7 Marjan Huizing,3 Richard Hess,3 Xiaodong Jiao,1 J. Fielding Hejtmancik,1 Arvydas Maminishkis,1 Simon W. M. John,5,6 Ronald Bush,4 and William J. Pavan3 cht PURPOSE. To characterize the ocular phenotype resulting from and RPE thinning. The synergistic effects of the Rab38 and mutation of Rab38, a candidate gene for Hermansky-Pudlak Tyrp1b alleles suggest that TYRP1 is not the only target of syndrome. RAB38 trafficking. This mouse line provides a useful model for cht/cht METHODS. Chocolate mice (cht, Rab38 ) and control het- studying melanosome biology and its role in human ocular erozygous (Rab38cht/ϩ) and wild-type mice were examined diseases. (Invest Ophthalmol Vis Sci. 2007;48:3905–3913) clinically, histologically, ultrastructurally, and electrophysi- DOI:10.1167/iovs.06-1464 ologically. Mice homozygous for both the Rab38cht and the Tyrp1b alleles were similarly examined. he analysis of mice that exhibit defects in coat coloration cht/cht RESULTS. Rab38 mice showed variable peripheral iris trans- T(coat color mutants) has aided in the identification of 1 illumination defects at 2 months of age. Patches of RPE hypo- genes important in eye, skin, and hair pigmentation. Many of pigmentation were noted clinically in 57% of Rab38cht/cht eyes these genes are mutated in patients with pigmentary anoma- and 6% of Rab38cht/ϩ eyes. Rab38cht/cht mice exhibited thin- lies.
    [Show full text]
  • Case Report: a Black and White Twin
    Journal of Perinatology (2010) 30, 434–436 r 2010 Nature Publishing Group All rights reserved. 0743-8346/10 www.nature.com/jp PERINATAL/NEONATAL CASE PRESENTATION Case report: a black and white twin MJ Claas, A Timmermans and HW Bruinse Department of Obstetrics, Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands Apgar scores at 1 and 5 min of 8 and 9 and 10 and 10, respectively. Albinism is an autosomal recessive disorder that is caused by a defective At physical examination, great differences between child I and synthesis of melanin, resulting in a generalized reduction of pigmentation child II were noticed. Child I appeared to have a light brown skin, in the skin, hair and eyes, and leading to an increased risk of skin cancer black curly hair and brown eyes, whereas the second child had a and vision problems. We report a case of a 22-year-old primigravida of striking white skin, red-blond curly hair and blue eyes (Figure 1). Negroid origin who delivered dichorial diamniotic twins: two daughters were An explanation for the great difference in appearance between born with a totally different appearance. The first child had a light brown the two children could be heteropaternity. Wenk et al.1 reported skin, black curly hair and brown eyes, whereas the second had a striking three cases of heteropaternity in a large parentage test database and white skin, red-blond curly hair and blue eyes. Oculocutaneous albinism quoted a frequency of 2.4% for such cases among dizygotic twins (OCA) and heteropaternal superfecundation were considered in the whose parents were involved in paternity suits.
    [Show full text]
  • Repositioning of Nitisinone to Treat Oculocutaneous Albinism
    Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism Prashiela Manga, Seth J. Orlow J Clin Invest. 2011;121(10):3828-3831. https://doi.org/10.1172/JCI59763. Commentary Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1–OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures. However, Onojafe et al., reporting in this issue of the JCI, provide hope for a new treatment approach for OCA, as they demonstrate that treating mice that model OCA-1b with nitisinone, which is FDA approved for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels, and increases eye and hair pigmentation. Find the latest version: https://jci.me/59763/pdf commentaries Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism Prashiela Manga and Seth J. Orlow Ronald O. Perelman Department of Dermatology and Department of Cell Biology, New York University School of Medicine, New York, New York, USA. Oculocutaneous albinism (OCA) is a group of genetic disorders characterized Melanin synthesis and its disruption by hypopigmentation of the skin, hair, and eyes. Affected individuals experi- in OCA ence reduced visual acuity and substantially increased skin cancer risk. There Tyrosinase, a type I membrane protein, are four major types of OCA (OCA1–OCA4) that result from disruption in catalyzes the first and rate-limiting reac- production of melanin from tyrosine.
    [Show full text]
  • Microbial Production of Melanin Pigments from Caffeic Acid and L-Tyrosine Using Streptomyces Glaucescens and FCS-ECH-Expressing Escherichia Coli
    International Journal of Molecular Sciences Article Microbial Production of Melanin Pigments from Caffeic Acid and L-Tyrosine Using Streptomyces glaucescens and FCS-ECH-Expressing Escherichia coli Soo-Yeon Ahn 1,†, Seyoung Jang 2,†, Pamidimarri D. V. N. Sudheer 3 and Kwon-Young Choi 1,2,4,* 1 Environment Research Institute, Ajou University, Suwon 16499, Gyeonggi-do, Korea; [email protected] 2 Department of Environmental and Safety Engineering, College of Engineering, Ajou University, Suwon 16499, Gyeonggi-do, Korea; [email protected] 3 Amity Institute of Biotechnology, AMITY University Chhattisgarh, Raipur 493558, India; [email protected] 4 Department of Environmental Engineering, College of Engineering, Ajou University, Suwon 16499, Gyeonggi-do, Korea * Correspondence: [email protected]; Tel.: +82-31-219-1825 † These authors contribute equally to this work. Abstract: In this study, synthetic allomelanin was prepared from wild-type Streptomyces glaucescens and recombinant Escherichia coli BL21(DE3) strains. S. glaucescens could produce 125.25 ± 6.01 mg/L of melanin with a supply of 5 mM caffeic acid within 144 h. The ABTS radical scavenging capacity of S. glaucescens melanin was determined to be approximately 7.89 mg/mL of IC50 value, which was comparable to L-tyrosine-based eumelanin. The isolated melanin was used in cotton fabric dyeing, and the effect of copper ions, laccase enzyme treatment, and the dyeing cycle on dyeing performance was investigated. Interestingly, dyeing fastness was greatly improved upon treatment with the laccase enzyme during the cotton dyeing process. Besides, the supply of C5-diamine, which was reported to Citation: Ahn, S.-Y.; Jang, S.; Sudheer, P.D.V.N.; Choi, K.-Y.
    [Show full text]
  • What Is Albinism?
    INFORMATION ABOUT ALBINISM What Is Albinism? Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the skin, hair and/ or eyes. Albinism occurs in all racial and ethnic groups throughout the world. In the U.S., approximately one in 18,000 to 20,000 people has some type of albinism. In other parts of the world, the occurrence can be as high as one in 3,000. Most children with albinism are born to parents whose hair and eye color are typical for their ethnic backgrounds. A common myth is that people with albinism have red eyes. Although lighting conditions can allow the blood vessels at the back of the eye to be seen, which can cause the eyes to look reddish or violet, most people with albinism have blue eyes, and some have hazel or brown eyes. There are Photo courtesy of Positive Exposure, Rick Guidotti different types of albinism and the amount vision in a variety of ways and are able to of pigment in the eyes varies. However, perform innumerable activities such as vision problems are associated with all reading, riding a bike or fishing. Some have types of albinism. sufficient vision to drive a car. Vision Considerations Dermatological Considerations People with albinism have vision problems Because most people with albinism that are not correctable with eyeglasses, have fair complexions, it’s important to and many have low vision. It’s the abnormal avoid sun damage to the skin and eyes development of the retina and abnormal by taking precautions such as wearing patterns of nerve connections between sunscreen or sunblock, hats, sunglasses and the eye and the brain that cause vision sun-protective clothing.
    [Show full text]
  • Genetic Causes of Oculocutaneous Albinism in Pakistani Population
    G C A T T A C G G C A T genes Article Genetic Causes of Oculocutaneous Albinism in Pakistani Population Zureesha Sajid 1,2,† , Sairah Yousaf 1,†, Yar M. Waryah 3,4, Tauqeer A. Mughal 5, Tasleem Kausar 6, Mohsin Shahzad 1,‡, Ali R. Rao 3, Ansar A. Abbasi 5 , Rehan S. Shaikh 2 , Ali M. Waryah 3 , Saima Riazuddin 1,7 and Zubair M. Ahmed 1,7,* 1 Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA; [email protected] (Z.S.); [email protected] (S.Y.); [email protected] (M.S.); [email protected] (S.R.) 2 Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan 60000, Pakistan; [email protected] 3 Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan; [email protected] (Y.M.W.); [email protected] (A.R.R.); [email protected] (A.M.W.) 4 Department of Molecular Biology and Genetics, Shaheed Benazir Bhutto University, Shaheed Benazir Abad 67450, Pakistan 5 Department of Zoology, Mirpur University of Science and Technology, Mirpur, Azad Jammu and Kashmir 10250, Pakistan; [email protected] (T.A.M.); [email protected] (A.A.A.) 6 Department of Zoology, Government Sadiq College Women University, Bahawalpur 63100, Pakistan; [email protected] 7 Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21202, USA * Correspondence: [email protected] † Contributed equally. Citation: Sajid, Z.; Yousaf, S.; ‡ Present address: Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Waryah, Y.M.; Mughal, T.A.; Kausar, Islamabad 44080, Pakistan.
    [Show full text]