Conditions / Genetic
homocystinuria-megaloblastic anemia cblG type
info · Genetic
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
Signs and symptoms
- Lethargy
- Short stature
- Hyperhomocystinemia
- Megaloblastic anemia
- Decreased methionine synthase activity
- Vomiting
- Homocystinuria
- Global developmental delay
- Hypomethioninemia
- Hypotonia
Also known as: HMAG; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type; homocystinuria-megaloblastic anemia, cblG complementation type; methylcobalamin deficiency, cblG type