Conditions / Genetic
mitochondrial pyruvate carrier deficiency
info · Genetic
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 B
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.
Signs and symptoms
- Increased circulating pyruvate concentration
- Organic aciduria
- Increased circulating lactate concentration
- Global developmental delay
- Hypotonia
- Hepatomegaly
- Generalized hypotonia
- Hypoglycemia
- Lactic acidosis
- Epicanthus