hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Term ID

DOID:0111039

Synonyms

• hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

Definition

A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (2)

References

• GARD:13177
• ICD10CM:E72.1
• OMIM:613752
• ORDO:88618

Ontology

Human Disease   ( DOID:0111039 )