Conditions / Genetic
homocystinuria
info · Genetic · ICD-10: E72.11
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
Signs and symptoms
- Hypermethioninemia
- Ataxia
- Intellectual disability
- Dysarthria
- Flushing
- Hyperhomocystinemia
- Brain atrophy
- Unsteady gait
- Exotropia
- Disproportionate tall stature
Medications that may treat it
Also known as: CBS deficiency; cystathionine beta synthase deficiency; cystathionine synthase deficiency