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14-September-2008 10:43:23 - error of metabolism Inborn error of metabolism Classification and external resources Image:Metabolic pathways small.png A few of the metabolic pathways in a cell. Metabolites are shown as dots and enzyme reactions as lines. ICD-10 E70.-E90. ICD-9 270-279 MedlinePlus 002438 eMedicine emerg/768 MeSH D008661 Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances substrates into others products. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases, and these terms are considered synonymous. The term inborn error of metabolism was coined by a British physician, Archibald Garrod 1857-1936, in the early 20th century 1908. He is known for the one gene, one enzyme hypothesis, which arose from his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923. Contents 1 Major categories of inherited metabolic diseases 2 Manifestations and presentations 3 Diagnostic techniques 4 Newborn screening 5 Management 6 Resources 7 References Major categories of inherited metabolic diseases Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do not fall into these categories. ICD-10 codes are provided where available. Disorders of carbohydrate metabolism E.g., glycogen storage disease E74.0 Disorders of amino acid metabolism E.g., phenylketonuria E70.0, maple syrup urine disease E71.0, glutaric acidemia type 1 Disorders of organic acid metabolism organic acidurias E.g., alcaptonuria E70.2 Disorders of fatty acid oxidation and mitochondrial metabolism E.g., medium chain acyl dehydrogenase deficiency glutaric acidemia type 2 Disorders of porphyrin metabolism E.g., acute intermittent porphyria E80.2 Disorders of purine or pyrimidine metabolism E.g., Lesch-Nyhan syndrome E79.1 Disorders of steroid metabolism E.g., congenital adrenal hyperplasia E25.0 Disorders of mitochondrial function E.g., Kearns-Sayre syndrome H49.8 Disorders of peroxisomal function E.g., Zellweger syndrome Q87.8 Lysosomal storage disorders E.g., Gaucher's disease E75.22 Manifestations and presentations Because of the enormous number of these diseases and wide range of systems affected, nearly every presenting complaint to a doctor may have a congenital metabolic disease as a possible cause, especially in childhood. The following are examples of potential manifestations affecting each of the major organ systems: Growth failure, failure to thrive, weight loss Ambiguous genitalia, delayed puberty, precocious puberty Developmental delay, seizures, dementia, encephalopathy, stroke Deafness, blindness, pain agnosia Skin rash, abnormal pigmentation, lack of pigmentation, excessive hair growth, lumps and bumps Dental abnormalities Immunodeficiency, thrombocytopenia, anemia, enlarged spleen, enlarged lymph nodes Many forms of cancer Recurrent vomiting, diarrhea, abdominal pain Excessive urination, renal failure, dehydration, edema Hypotension, heart failure, enlarged heart, hypertension, myocardial infarction Hepatomegaly, jaundice, liver failure Unusual facial features, congenital malformations Excessive breathing hyperventilation, respiratory failure Abnormal behavior, depression, psychosis Joint pain, muscle weakness, cramps Hypothyroidism, adrenal insufficiency, hypogonadism, diabetes mellitus Diagnostic techniques Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent definitive test to confirm the suspected diagnosis. Common screening tests used in the last sixty years: Ferric chloride test turned colors in reaction to various abnormal metabolites in urine Ninhydrin paper chromatography detected abnormal amino acid patterns Guthrie bacterial inhibition assay detected a few amino acids in excessive amounts in blood The dried blood spot can be used for multianalyte testing using Tandem Mass Spectroscopy MS/MS. Quantitative plasma amino acids, quantitative urine amino acids Urine organic acids by mass spectrometry Specific diagnostic tests or focused screening for a small set of disorders: Tissue biopsy or necropsy: liver, muscle, brain, bone marrow Skin biopsy and fibroblast cultivation for specific enzyme testing Specific DNA testing Newborn screening Dozens of congenital metabolic diseases are now detectable by newborn screening tests, especially the expanded testing using mass spectrometry. This is an increasingly common way for the diagnosis to be made and sometimes results in earlier treatment and a better outcome. Management Please help improve this section by expanding it. Further information might be found on the talk page or at requests for expansion. June 2008 In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the last two decades, enzyme replacement, gene transfer, and organ transplantation have become available and beneficial for many previously untreatable disorders. Some of the more common or promising are listed. Dietary restriction E.g., reduction of dietary protein remains a mainstay of treatment for phenylketonuria and other amino acid disorders. Dietary supplementation or replacement E.g., cornstarch several times a day helps prevent people with glycogen storage disease from becoming hypoglycemic as quickly. Vitamins E.g., thiamine supplementation benefits several types of lactic acidosis. Intermediary metabolites, compounds, or drugs that facilitate or retard specific metabolic pathways E.g., Dialysis E.g., Enzyme replacement E.g., Gene transfer E.g., Bone marrow or organ transplantation E.g., Treatment of symptoms and complications E.g., Prenatal diagnosis and avoidance of pregnancy or abortion of an affected fetus E.g., Resources For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver 1. Fernandes 2, Clarke 3, Blau diagnosis 4, Blau treatment 5, Lyon 6, Nyhan 7, Hoffmann 8 and Zschocke 9. Other ressources include genetests, orphanet, OMIM, Metab-L,societies such as the SSIEM, the SIMD and links therein. For medical students and clinicians looking for overviews of the field, such reviews can be found on pubmed and in good pediatric textbooks e.g. articles by Saudubray10, Ellaway11, Raghuveer12 or Burton13 and textbooks by Hay14 or Behrman15. For patients, their families or other individuals seeking good information and support groups, the National Institutes of Health offers the office of rare diseases, genetics home reference, medlineplus and health information. The National Human Genome Research Institute hosts an information center, a section for patients and the public and additional educational resources. Support groups can be found at NORD, Genetic Alliance and Orphanet. The genetic education center at the KUMC has many more useful links. References ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. accessed 2007. The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog. ^ Fernandes, J.; Saudubray, J.M.; van den Berghe, G.; Walter, J.H. 2006. Inborn Metabolic Diseases : Diagnosis and Treatment, 4th, Springer, 561 p. ^ Clarke, J.T.R. 2005. A Clinical Guide to Inherited Metabolic Diseases, 3rd, Cambridge: Cambridge University Press, 358 p. doi:10.2277/0521614996. ISBN 978-0521614993. ^ Blau, N.; Duran, M.; Blaskovics, M.E.; Gibson, K.M. 2002. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, 2nd, Springer, 716 p. ISBN 978-3-540-42542-7. ^ Blau, N; Hoffmann, G.F.; Leonard, J.; Clarke, J.T.R. 2006. Physician's Guide to the Treatment And Follow-up of Metabolic Diseases, 1st, Springer, 416 p. ISBN 3-540-22954-X. ^ Lyon, G.; Kolodny, E.H.; Pastores, G. 2006. Neurology of Herary Molecular Metabolic Disease of Children, 3rd, McGraw-Hill Professional, 500p. ^ Nyhan, W.L.; Barshop, B.; Ozand, P.T. 2005. Atlas of Metabolic Diseases, 2nd, Oxford University Press, 800 p. ^ Hoffmann, G.F; Nyhan, W.L.; Zschocke, J.; Kahler, S.G; Mayatepek, E. 2001. Inherited Metabolic diseases. Lippincott Williams Wilkins, 448 p. ^ Zschocke, J; Hoffmann, G.F. 2004. Vademecum Metabolicum, 2nd, Schattauer GmbH, 176 p. ^ Saudubray J, Sedel F, Walter J 2006. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis 29 2-3: 261-74. doi:10.1007/s10545-006-0358-0. PMID 16763886. ^ Ellaway C, Wilcken B, Christodoulou J 2002. Clinical approach to inborn errors of metabolism presenting in the newborn period. J Paediatr Child Health 38 5: 511-7. doi:10.1046/j.1440-1754.2002.00047.x. PMID 12354271. ^ Raghuveer T, Garg U, Graf W 2006. Inborn errors of metabolism in infancy and early childhood: an update. Am Fam Physician 73 11: 1981-90. PMID 16770930. ^ Burton B 1998. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 102 6: E69. doi:10.1542/peds.102.6.e69. PMID 9832597. ^ Hay, W.H., Jr.; Levin, M.J.; Sondheimer, J.M.; Deterding, R.R. 2006. Current Pediatric Diagnosis and Treatment, 18th ed., McGraw-Hill, 1306 p. ^ Behrman, R.E.; Kliegman, R.M.; Jenson, H.B. 2004. Nelson Textbook of Pediatrics, 17th ed., Elsevier, 2672 p. v d e Inborn error of carbohydrate metabolism including glycogen storage diseases E73-74, 271 Disaccharide catabolism Lactose intolerance - Sucrose intolerance Monosaccharide catabolism fructose: Essential fructosuria - Fructose intolerance galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate uridylyltransferase galactosemia - Galactose epimerase deficiency Monosaccharide transport Glucose-galactose malabsorption - Inborn errors of renal tubular transport Renal glycosuria Glycolysis GSD type VII, Tarui's, phosphofructokinase - Triosephosphate isomerase deficiency - Pyruvate kinase deficiency Pyruvate catabolism PDHA - Fumarase deficiency Gluconeogenesis PCD - Fructose bisphosphatase deficiency - GSD type I, von Gierke, glucose 6-phosphatase Glycogenesis GSD type 0, glycogen synthase - GSD type IV, Andersen's, branching Glycogenolysis GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatase Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency - Pentosuria Other Hyperoxaluria Primary hyperoxaluria see also glycolysis enzymes, pentose phosphate pathway enzymes, fructose and galactose metabolism enzymes v d e Other metabolic pathology / Inborn error of metabolism E70-90, 270-279 Biotin/MCD Biotinidase deficiency - Holocarboxylase synthetase deficiency Other Aldolase A deficiency - Alpha 1-antitrypsin deficiency - Cystic fibrosis - Acatalasia Retrieved from http://en..org/wiki/Inborn_error_of_metabolism Categories: Metabolic disorders | Pediatrics | Inborn errors of metabolism | MetabolismHidden categories: Articles to be expanded since June 2008 | All articles to be expanded Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Español Français Lietuvių Polski Português Türkçe This page was last modified on 26 August 2008, at 13:23
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