KEGG   DISEASE: Pyruvate dehydrogenase E2 deficiencyHelp
Entry
H01999                      Disease                                

Name
Pyruvate dehydrogenase E2 deficiency
  Supergrp
Pyruvate dehydrogenase complex deficiency [DS:H00072]
Description
Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. Recently, mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have been described. Patients are less severely affected than typical patients with E1 mutations. Episodic dystonia was the major neurological manifestation.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01999  Pyruvate dehydrogenase E2 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
     H01999  Pyruvate dehydrogenase E2 deficiency
BRITE hierarchy
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00620  Pyruvate metabolism
Gene
DLAT [HSA:1737] [KO:K00627]
Other DBs
ICD-11: 5C53.02
ICD-10: E74.4
MeSH: C565448
OMIM: 245348
Reference
  Authors
Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK
  Title
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
  Journal
Ann Neurol 58:234-41 (2005)
DOI:10.1002/ana.20550

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