homocystinuria-megaloblastic anemia cblE type

Term ID

DOID:0112255

Synonyms

• functional methionine synthase deficiency type cblE
• HMAE
• homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type
• methylcobalamin deficiency, cblE type
• vitamin B12-responsive homocystinuria, 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. https://pubmed.ncbi.nlm.nih.gov/3384945/

References

• OMIM:236270
• ORDO:2169

Ontology

Human Disease   ( DOID:0112255 )