methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

info · Genetic · ICD-10: E71.1

A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.

Signs and symptoms

Hyperammonemia
Hypoglycemia
Methylmalonic acidemia
Episodic metabolic acidosis
Respiratory distress
Methylmalonic aciduria
Thrombocytopenia
Decreased total neutrophil count
Metabolic ketoacidosis
Stage 5 chronic kidney disease

Also known as: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; vitamin B12-unresponsive methylmalonic aciduria