OBO ID: DOID:0080363
Term Name: mitochondrial pyruvate carrier deficiency Search Ontology:
Synonyms:
Definition: A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. https://www.ncbi.nlm.nih.gov/pubmed/22628558
References:
Ontology: Human Disease   (DOID:0080363)
OTHER mitochondrial pyruvate carrier deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPC1 Mitochondrial pyruvate carrier deficiency 614741
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None