Pyruvate Dehydrogenase E2 Deficiency malady
Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Pyruvate Dehydrogenase E2 Deficiency:
Orphanet epidemiological data:52
pyruvate dehydrogenase e2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood
Global: Genetic diseases, Metabolic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:68 Pyruvate dehydrogenase E2 deficiency: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent.
MalaCards based summary: Pyruvate Dehydrogenase E2 Deficiency, is also known as dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, and has symptoms including ataxia, ataxia and drooling. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase).
Description from OMIM:50 245348
HPO human phenotypes related to Pyruvate Dehydrogenase E2 Deficiency:(show all 16)
UMLS symptoms related to Pyruvate Dehydrogenase E2 Deficiency:ataxia, drooling, dystonia, paroxysmal
Clinvar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:5
Search GEO for disease gene expression data for Pyruvate Dehydrogenase E2 Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet