Term Name: hypermethioninemia due to adenosine kinase deficiency
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.
Ontology: Human Disease [DOID:0111038]   ( DOID:0111038 )

Relationships
is a type of: hypermethioninemia
inverse disjoint_from: glycine N-methyltransferase deficiency