methylmalonic acidemia and homocysteinemia cblX type

Term ID

DOID:0111814

Synonyms

• combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
• mental retardation, X-linked 3
• methylmalonic aciduria with homocystinuria, type cblX

Definition

A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (2)

References

• OMIM:309541
• ORDO:369962

Ontology

Human Disease   ( DOID:0111814 )