Conditions / Genetic
methylmalonic acidemia cblA type
info · Genetic · ICD-10: E71.1
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
Signs and symptoms
- Hypotonia
- Elevated serum anion gap
- Ketonuria
- Elevated urine 3-hydroxypropionic acid level
- Elevated urine 2-methylcitric acid level
- Hyperammonemia
- Brisk reflexes
- Metabolic acidosis
- Methylmalonic aciduria
- Lethargy
Also known as: methylmalonic aciduria cblA type; methylmalonic aciduria of the cblA complementation type; methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type