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Adenosine kinase deficiency

MONDO:0100255

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.

Also known as: ADK deficiency, ADK hypermethioninemia, MRT8, adenosine kinase deficiency, autosomal recessive intellectual disability 8, hypermethioninemia due to adenosine kinase deficiency, hypermethioninemia encephalopathy due to ADK deficiency, hypermethioninemia encephalopathy due to adenosine kinase deficiency

52 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Inborn errors of metabolism (42) Human disease (14) Hereditary neurological disease (5) Autosomal recessive disease (4)
Trials to join now! 25 Not yet recruiting 8 Not yet finished but already full! 6 Completed 13
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