hypermethioninemia due to adenosine kinase deficiency

Term ID

DOID:0111038

Synonyms

• ADK hypermethioninemia
• autosomal recessive mental retardation 8
• hypermethioninemia encephalopathy due to adenosine kinase deficiency
• hypermethioninemia encephalopathy due to ADK deficiency
• MRT8

Definition

A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (2)

References

• ICD10CM:E72.1
• MIM:614300
• ORDO:289290

Ontology

Human Disease   ( DOID:0111038 )