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:51
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:67 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 jerky head movements, lactic acidosis and poor speech. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase).
Description from OMIM:49 245348
HPO human phenotypes related to Pyruvate Dehydrogenase E2 Deficiency:(show all 16)
UMLS symptoms related to Pyruvate Dehydrogenase E2 Deficiency:dystonia, paroxysmal, drooling, ataxia
Clinvar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:5
Search GEO for disease gene expression data for Pyruvate Dehydrogenase E2 Deficiency.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet