ZFIN Human Disease: mitochondrial pyruvate carrier deficiency

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:	OMIM:614741 ORDO:447784
Ontology:	Human Disease ( DOID:0080363 )

Relationships

is a type of:	autosomal recessive disease mitochondrial metabolism disease autosomal recessive disease mitochondrial metabolism disease Show first 5 Terms

OTHER mitochondrial pyruvate carrier deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MPC1	mpc1	Mitochondrial pyruvate carrier deficiency	614741

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None