Version: 8.0.0
Date: Tue Jan 28 2025
homocystinuria-megaloblastic anemia cblE type
DOID:0112255
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

homocystinuria-megaloblastic anemia cblE type

Definition
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine 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 the MTRR gene on chromosome 5p15.31.
Synonyms
  • functional methionine synthase deficiency type cblE
  • HMAE
Cross References
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