Inborn errors of metabolism

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This editable Main Article is under development and subject to a disclaimer.

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Inborn errors of metabolism are genetic disorders in which the body cannot properly turn food into energy or breakdown waste products. The disorders are usually caused by defects in specific enzymes that help metabolize, catabolize or synthesize chemical compounds.

## Resources[edit]

For clinicians and scientists in the field of inborn errors of metabolism, good resources include books by Scriver [1]. Fernandes [2], Clarke [3], Blau [4], Blau [5], Lyon [6], Nyhan [7], Hoffmann [8] and Zschocke [9]. Other ressources include genetests, orphanet, OMIM, 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 Saudubray[10], Ellaway[11], Raghuveer[12] or Burton[13] and textbooks by Hay[14] or Behrman[15]).

For patients, their families and students seeking good information or networks, the National Institutes of Health offers many resources : the office of rare diseases, genetics home reference, medlineplus and health information. Also part of the NIH, the National Human Genome Research Institute hosts the genetic and rare diseases information center, a section on genetics and genomics for patients and the public and additional educational resources. Other excellent resources include NORD, orphanet and the genetic education center at the KUMC.

## Common Metabolic Diseases[edit]

ADA converts adenosine to inosine and deoxyadenosine to deoxyinosine Metabolic Disease| Enzyme Deficiency | Metabolic Pathway| Symptoms

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Adenosine deaminase deficiency| Adenine deaminase (ADA)| Inhibits synthesis of Hypoxanthine| |
Adenylosuccinate lyase deficiency| adenylosuccinase| | |
Alkaptonuria| homogentisic acid oxidase| Stops catabolism of tyrosine to (via homogentisic acid) Maleylacetoacetic acid| |
2-Aminoadipic aciduria| | | |
Argininosuccinic aciduria| argininosuccinate lyase| | Urea cycle defect|
Aspartylglucosaminuria| | | |
Biotinidase deficiency| | | |
Canavan disease| | | |
Citrullinemia| | | |
Congenital disorder of glycosylation type IIb| | | |
[[Cystathionine  β {\displaystyle \beta } -synthase deficiency]]| | | |
Dihydropyrimidinase deficiency| | | |
Dihydropyrimidine dehydrogenase deficiency| | | |
Dimethylglycine dehydrogenase deficiency| | | |
Galactosemia| | | |
Glutaric aciduria type I| | | |
Glutaric aciduria type II| | | |
Glycerol kinase deficiency| | | |
Guanidinoacetate methyltransferase deficiency| | | |
Hawkinsinuria| | | |
Histidinemia| | | |
4-Hydroxybutyric aciduria or succinic semialdehyde dehydrogenase deficiency| | | |
2-Hydroxyglutaric aciduria| | | |
Sterol 27-hydroxylate deficiency or cerebrotendinouse xanthomatosistd>| | | |
Iminoglycinuria| | | |
Isovaleric aciduria| | | |
[[ β {\displaystyle \beta } -Ketothiolase deficiency]]| | | |
Lactic acidemia| | | |
Lysinuric protein intolerance| | | |
Malonic aciduria| | | |
[[ β {\displaystyle \beta } -Mannosidosis]]| | | |
Maple syrup urine disease| | | |
Methionine adenosyltransferase deficiency| | | |
3-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency| | | |
Methylmalonic aciduria| | | |
Mevalonic aciduria| | | |
Molybdenum cofactor deficiency| | | |
Non-ketotic hyperglycinemia| | | |
Ornithine transcarbamylase deficiency| | | |
5-Oxoprolinuria| | | |
Phenylketonuria (PKU)| | | |
Polyol disease with arabinitol and ribitol| | | |
Polyol disease with arbinose and arabinitol| | | |
Prolidase deficiency| | | |
Prolinemia type II| | | |
Propionic aciduria| | | |
Purine nucleoside phosphorylase deficiency| | | |
Saccharopinuria/Hyperlysinemia II| | | |
Sarcosinemia| | | |
Short-chain acyl-CoA dehydrogenase deficiency| | | |
Sialidosis| | | |
Trimethylaminuria/Fish odor syndrome| | | |
Tyrosinemia type I| | | |
Orotic aciduria/UMP synthase deficiency| | | |
[[ β {\displaystyle \beta } -Ureidopropionase deficiency]]| | | |
Xanthine dehydrogenase deficiency| | | |

## References[edit]

1. ↑ Scriver, C.R., 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. - Free summaries of 255 chapters, full text of chapters can be accessed through various universities and organizations. Comments can be posted on the OMMBID blog.
2. ↑ Fernandes, J.; Saudubray, J.M.; van den Berghe, G.; Walter, J.H. (2006). Inborn Metabolic Diseases : Diagnosis and Treatment, 4th. Springer, 561 p.
3. ↑ 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.
4. ↑ Blau, N; Hoffmann, G.F.; Leonard, J.; Ckarke, 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.
5. ↑ 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.
6. ↑ Lyon, G.; Kolodny, E.H.; Pastores, G. (2006). Neurology of Hereditary Molecular & Metabolic Disease of Children, 3rd. McGraw-Hill Professional, 500p.
7. ↑ Nyhan, W.L.; Barshop, B.; Ozand, P.T. (2005). Atlas of Metabolic Diseases, 2nd. Oxford University Press, 800 p.
8. ↑ Hoffmann, G.F; Nyhan, W.L.; Zschocke, J.; Kahler, S.G; Mayatepek, E. (2001). Inherited Metabolic diseases. Lippincott Williams & Wilkins, 448 p.
9. ↑ Zschocke, J; Hoffmann, G.F. (2004). Vademecum Metabolicum, 2nd. Schattauer GmbH, 176 p.
10. ↑ Saudubray J, Sedel F, Walter J. "Clinical approach to treatable inborn metabolic diseases: an introduction". J Inherit Metab Dis 29 (2-3): 261-74. PMID 16763886.
11. ↑ 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. PMID 12354271.
12. ↑ 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.
13. ↑ Burton B (1998). "Inborn errors of metabolism in infancy: a guide to diagnosis". Pediatrics 102 (6): E69. PMID 9832597.
14. ↑ 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.
15. ↑ Behrman, R.E.; Kliegman, R.M.; Jenson, H.B. (2004). Nelson Textbook of Pediatrics, 17th ed.. Elsevier, 2672 p.