|OBO ID: DOID:3649|
|Term Name:||pyruvate decarboxylase deficiency||Search Ontology:|
|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. (3)|
|Ontology:||Human Disease (DOID:3649)|
|is a type of:||
OTHER pyruvate decarboxylase deficiency PAGES
|Human Gene||Zebrafish Ortholog||OMIM Term||OMIM Phenotype ID|
|DLAT||Pyruvate dehydrogenase E2 deficiency||245348|
|PDHA1||Pyruvate dehydrogenase E1-alpha deficiency||312170|
|PDHB||Pyruvate dehydrogenase E1-beta deficiency||614111|
|PDHX||Lacticacidemia due to PDX1 deficiency||245349|
|PDP1||Pyruvate dehydrogenase phosphatase deficiency||608782|
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.