KEGG   DISEASE: Isovaleric acidemia
Entry
H00173                      Disease                                
Name
Isovaleric acidemia
  Supergrp
Secondary hyperammonemia [DS:H01400]
Description
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives of isovaleryl-CoA.
Category
Inherited metabolic disorder
Brite
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
     H00173  Isovaleric acidemia
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06024  Valine, leucine and isoleucine degradation
   H00173  Isovaleric acidemia
Pathway
hsa00280  Valine, leucine and isoleucine degradation
Network
nt06024 Valine, leucine and isoleucine degradation
Gene
IVD [HSA:3712] [KO:K00253]
Other DBs
ICD-11: 5C50.E0
ICD-10: E71.1
MeSH: C538167
OMIM: 243500
Reference
PMID:16602101
  Authors
Vockley J, Ensenauer R
  Title
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
  Journal
Am J Med Genet C Semin Med Genet 142C:95-103 (2006)
DOI:10.1002/ajmg.c.30089
Reference
PMID:15486829
  Authors
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
  Title
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
  Journal
Am J Hum Genet 75:1136-42 (2004)
DOI:10.1086/426318
LinkDB

» Japanese version

DBGET integrated database retrieval system