hypermethioninemia due to adenosine kinase deficiency

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 homozygou

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.

Signs and symptoms

• Hypermethioninemia
• Poor speech
• Seizure
• Hypotonia
• Multifocal epileptiform discharges
• Elevated circulating S-adenosyl-L-methionine concentration
• Elevated circulating alanine aminotransferase concentration
• Failure to thrive
• Hypertelorism
• Muscle weakness

Also known as: ADK hypermethioninemia; MRT8; autosomal recessive mental retardation 8; hypermethioninemia encephalopathy due to ADK deficiency; hypermethioninemia encephalopathy due to adenosine kinase deficiency