KEGG DISEASE: Isobutyryl-CoA dehydrogenase deficiency

DISEASE: Isobutyryl-CoA dehydrogenase deficiency

Entry

H01279                      Disease

Name

Isobutyryl-CoA dehydrogenase deficiency

Description

Isobutyryl-CoA dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause IBD deficiency.

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
     H01279  Isobutyryl-CoA dehydrogenase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06024  Valine, leucine and isoleucine degradation
   H01279  Isobutyryl-CoA dehydrogenase deficiency

Pathway

hsa00280

Valine, leucine and isoleucine degradation

Network

nt06024 Valine, leucine and isoleucine degradation

Gene

ACAD8 [HSA:27034] [KO:K11538]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:12359132

Authors

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J

Title

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

Journal

Mol Genet Metab 77:68-79 (2002)
DOI:10.1016/S1096-7192(02)00152-X

Reference

PMID:16857760

Authors

Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS

Title

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Journal

Pediatr Res 60:315-20 (2006)
DOI:10.1203/01.pdr.0000233085.72522.04

LinkDB

» Japanese version

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