PDHA1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | pyruvate dehydrogenase (lipoamide) alpha 1 |
| EntrezGene | 5160 |
| PheGenI | 5160 |
| VariationViewer | 5160 |
| ClinVar | PDHA1 |
| GeneCards | PDHA1 |
| dbSNP | 5160 |
| Diseases | PDHA1 |
| SADR | 5160 |
| HugeNav | 5160 |
| wikipedia | PDHA1 |
| PDHA1 | |
| gopubmed | PDHA1 |
| EVS | PDHA1 |
| HEFalMp | PDHA1 |
| MyGene2 | PDHA1 |
| 23andMe | PDHA1 |
| UniProt | P08559 |
| Ensembl | ENSG00000131828 |
| OMIM | 300502 |
| # SNPs | 48 |
Defects in PDHA1 are a cause of pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]. PDHE1 deficiency is the most common enzyme defect in patients with primary lactic acidosis. It is associated with variable clinical phenotypes ranging from neonatal death to prolonged survival complicated by developmental delay, seizures, ataxia, apnea, and in some cases to an X-linked form of Leigh syndrome (LS) (Leigh encephalomyelopathy)
- from genecards
