Conditions / Genetic
methylmalonic aciduria and homocystinuria type cblC
info · Genetic
A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of
A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
Signs and symptoms
- Decreased methylmalonyl-CoA mutase activity
- Decreased methionine synthase activity
- Methylmalonic acidemia
- Tachycardia
- Hyperhomocystinemia
- Lethargy
- Hemolytic-uremic syndrome
- Seizure
- Renal insufficiency
- Hypotonia
Also known as: Cobalamin C deficiency; MAHCC