Search Ontology:
Human Disease

mitochondrial pyruvate carrier deficiency

Term ID
DOID:0080363
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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