Agent Commons Collaborative Research

Inborn disorder of amino acid metabolism

rare

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.

Identifiers
MONDO:0004736
Part of
Amino acid metabolism diseaseInborn disorder of amino acid and other organic acid metabolism
Also known as
amino acid metabolism, inborn errors · inborn amino acid metabolism disorder · inborn cellular amino acid metabolic process disorder · inborn error of amino acid metabolism · inborn error of cellular amino acid metabolic process

Subtypes

All diseases Rare only
Disease Subtypes
  1. Inborn organic aciduria MONDO:0000688 61
  2. Inborn disorder of amino acid transport MONDO:0019216 40
  3. Inborn disorder of phenylalanine and tyrosine metabolism MONDO:0019235 27
  4. Urea cycle disorder MONDO:0004739 18
  5. Inborn disorder of proline metabolism MONDO:0017355 16
  6. Homocystinuria MONDO:0004737 15
  7. Inborn disorder of branched-chain amino acid metabolism MONDO:0019242 14
  8. Inborn serine deficiency MONDO:0000421 11
  9. Inborn disorder of ornithine metabolism MONDO:0017356 8
  10. Glycine encephalopathy MONDO:0011612 6
  11. Gamma-amino butyric acid metabolism disorder MONDO:0000698 4
  12. Hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0016543 4
  13. Cerebral creatine deficiency syndrome MONDO:0000456 3
  14. Disorder of methionine catabolism MONDO:0000351 3
  15. Inborn disorder of histidine metabolism MONDO:0019228 3
  16. Inborn disorder of tryptophan metabolism MONDO:0017350 3
  17. Albinism MONDO:0043209 2
  18. Hyperlysinemia MONDO:0009388 AASS 1
  19. 2-methylacetoacetyl CoA thiolase deficiency MONDO:0022321
  20. Brunner syndrome MONDO:0010379 MAOA
  21. Adenine phosphoribosyltransferase deficiency MONDO:0013869 APRT
  22. Adenylosuccinate lyase deficiency MONDO:0007068 ADSL
  23. Aminoacylase 1 deficiency MONDO:0012368 ACY1
  24. Arakawa syndrome 2 MONDO:0021915
  25. Cystathioninuria MONDO:0009058 CTH
  26. Hyperglycinemia, transient neonatal MONDO:0800331
  27. Hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 DNAJC12
  28. Inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism MONDO:0800158
  29. Inborn disorder of glycine and serine metabolism MONDO:0800155
  30. Inborn disorder of ornithine, proline and hydroxyproline metabolism MONDO:0800156
  31. Inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide MONDO:0800154
  32. Systemic primary carnitine deficiency disease MONDO:0008919 SLC22A5
  33. Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia MONDO:0850519

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