adenosine kinase deficiency
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.
MONDO:0000351
disorder of methionine catabolism
is_a
MONDO:0019502
autosomal recessive non-syndromic intellectual disability
is_a
ADK deficiency
exact
ADK hypermethioninemia
exact
MRT8
exact
adenosine kinase deficiency
exact
autosomal recessive intellectual disability 8
exact
hypermethioninemia due to adenosine kinase deficiency
exact
hypermethioninemia encephalopathy due to ADK deficiency
exact
hypermethioninemia encephalopathy due to adenosine kinase deficiency
exact
mental retardation, autosomal recessive 8
related
mental retardation, autosomal recessive 8, formerly
related
mental retardation, autosomal recessive 8; MRT8
related
SPCC338.14