Inborn errors of metabolism

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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.


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

ADA converts adenosine to inosine and deoxyadenosine to deoxyinosine
Metabolic DiseaseEnzyme Deficiency Metabolic PathwaySymptoms
Adenosine deaminase deficiencyAdenine deaminase (ADA)Inhibits synthesis of Hypoxanthine
Adenylosuccinate lyase deficiencyadenylosuccinase
Alkaptonuriahomogentisic acid oxidaseStops catabolism of tyrosine to (via homogentisic acid) Maleylacetoacetic acid
2-Aminoadipic aciduria
Argininosuccinic aciduriaargininosuccinate lyaseUrea cycle defect
Biotinidase deficiency
Canavan disease
Congenital disorder of glycosylation type IIb
[[Cystathionine -synthase deficiency]]
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dimethylglycine dehydrogenase deficiency
Glutaric aciduria type I
Glutaric aciduria type II
Glycerol kinase deficiency
Guanidinoacetate methyltransferase deficiency
4-Hydroxybutyric aciduria or succinic semialdehyde dehydrogenase deficiency
2-Hydroxyglutaric aciduria
Sterol 27-hydroxylate deficiency or cerebrotendinouse xanthomatosistd>
Isovaleric aciduria
[[-Ketothiolase deficiency]]
Lactic acidemia
Lysinuric protein intolerance
Malonic aciduria
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
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
Short-chain acyl-CoA dehydrogenase deficiency
Trimethylaminuria/Fish odor syndrome
Tyrosinemia type I
Orotic aciduria/UMP synthase deficiency
[[-Ureidopropionase deficiency]]
Xanthine dehydrogenase deficiency


  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.