Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Synonyms: ADK hypermethioninemia | Hypermethioninemia encephalopathy due to ADK deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder 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.
Data from Orphanetare used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version May 2023.
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Hypermethioninemia encephalopathy due to adenosine kinase deficiency?
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