| Metadata | |
|---|---|
| ID | DOID:3649 |
| Name | pyruvate decarboxylase deficiency |
| Definition | A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:46683007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency of pyruvic dehydrogenase [EXACT] pyruvate dehydrogenase complex deficiency disease [EXACT] pyruvate dehydrogenase deficiency [EXACT] |
| Parent Relationships |