Conditions / Genetic
methylmalonic aciduria and homocystinuria type cblD
info · Genetic
A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
Signs and symptoms
- Encephalopathy
- Moderate intellectual disability
- Dysmetria
- Seizure
- Hyperhomocystinemia
- Brisk reflexes
- Homocystinuria
- Feeding difficulties
- Global developmental delay
- Psychosis
Also known as: Cobalamin D deficiency; MAHCD