KEGG   DISEASE: Dihydrolipoamide dehydrogenase deficiency
Entry
H02000                      Disease                                

Name
Dihydrolipoamide dehydrogenase deficiency;
E3 deficiency;
Maple syrup urine disease type III
  Supergrp
Pyruvate dehydrogenase complex deficiency [DS:H00072]
Maple syrup urine disease [DS:H00172]
Alpha-ketoglutarate dehydrogenase complex deficiency [DS:H02006]
Diseases of the tricarboxylic acid cycle [DS:H01022]
Mitochondrial disease [DS:H01427]
Description
Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme complexes: branched chain alpha-ketoacid dehydrogenase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H02000  Dihydrolipoamide dehydrogenase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02000  Dihydrolipoamide dehydrogenase deficiency
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00020  Citrate cycle (TCA cycle)
hsa00280  Valine, leucine and isoleucine degradation
hsa00620  Pyruvate metabolism
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00841  DLD deficiency in branched-chain amino acids degradation
Gene
DLD [HSA:1738] [KO:K00382]
Other DBs
ICD-11: 5C53.02
ICD-10: E71.0
MeSH: C573012
OMIM: 246900
Reference
  Authors
Quinonez SC, Seeley AH, Seeterlin M, Stanley E, Ahmad A
  Title
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
  Journal
Mol Genet Metab Rep 1:345-349 (2014)
DOI:10.1016/j.ymgmr.2014.07.007
Reference
  Authors
Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP
  Title
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
  Journal
Hum Mutat 25:323-4 (2005)
DOI:10.1002/humu.9319
LinkDB

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