An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in

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lathosterolose

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A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of at

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encefalopathie in kinderjaren door thiaminepyrofosfokinasedeficiëntie

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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 dys

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hypermethioninemie-encefalopathie door adenosinekinasedeficiëntie

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Date index: 2022-01-21