Metadata | |
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ID | DOID:0080363 |
Name | mitochondrial pyruvate carrier deficiency |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |