KEGG   DISEASE: Ornithine transcarbamylase deficiency
Entry
H00187                      Disease                                

Name
Ornithine transcarbamylase deficiency
  Supergrp
Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
Description
Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation.
Category
Inherited metabolic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00187  Ornithine transcarbamylase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00187  Ornithine transcarbamylase deficiency
Pathway
hsa00220  Arginine biosynthesis
Network
nt06010  Urea cycle
  Element
N00597  OTC deficiency in urea cycle
Gene
OTC; ornithine carbamoyltransferase [HSA:5009] [KO:K00611]
Drug
Sodium phenylbutyrate [DR:D05868]
Other DBs
ICD-11: 5C50.9 5C50.AY
ICD-10: E72.4
MeSH: D020163
OMIM: 311250
Reference
  Authors
Gropman AL, Summar M, Leonard JV
  Title
Neurological implications of urea cycle disorders.
  Journal
J Inherit Metab Dis 30:865-79 (2007)
DOI:10.1007/s10545-007-0709-5
Reference
  Authors
Gordon N
  Title
Ornithine transcarbamylase deficiency: a urea cycle defect.
  Journal
Eur J Paediatr Neurol 7:115-21 (2003)
DOI:10.1016/S1090-3798(03)00040-0
Reference
  Authors
Butterworth RF
  Title
Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency.
  Journal
Metab Brain Dis 15:83-91 (2000)
DOI:10.1023/A:1011165819480

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