/adenosine kinase deficiency

adenosine kinase deficiency

Rare Disease

MONDO:0100255

Also Known As

ADK deficiencyADK hypermethioninemiaMRT8adenosine kinase deficiencyautosomal recessive intellectual disability 8autosomal recessive mental retardation 8hypermethioninemia due to adenosine kinase deficiencyhypermethioninemia encephalopathy due to ADK deficiencyhypermethioninemia encephalopathy due to adenosine kinase deficiencymental retardation, autosomal recessive 8mental retardation, autosomal recessive 8, formerlymental retardation, autosomal recessive 8; MRT8

Definition

A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.