Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


CRRD ID: 14034383
Species: Sus scrofa
CRRD Object: Gene
Symbol: PDHA1
Name: pyruvate dehydrogenase E1 alpha 1 subunit
Acc ID: DOID:3649
Term: pyruvate decarboxylase deficiency
Definition: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Definition Source(s): MESH:D015325,,,
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:126076009068941CTDCTD Direct Evidence: marker/mechanism

 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency

 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency

 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency

PMID:23871722, PMID:25741868, PMID:7692352, PMID:8032855, PMID:8598634
 ISSRGD:126076009068941CRRD PMID:20685142, REF_RGD_ID:13207454
 ISSRGD:126076009068941CRRDDNA:mutations: :multiple

PMID:20002461, REF_RGD_ID:13207453
 ISSRGD:126076009068941CRRDDNA:mutations:multiple (human)

PMID:10679936, REF_RGD_ID:731230
Go Back to source page   Continue to Ontology report


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.