Batwing appearance – A neuroradiologic clue to glutaric aciduria-type 1
Tóm tắt
Glutaric aciduria type 1 (GA-1) is a rare inherited neurometabolic disorder due to enzymatic block in the common degradation pathway for lysine and tryptophan. We report a 16 month girl child who presented with an initial acute encephalopathic crisis followed by static encephalopathy with characteristic neuroimaging findings. Diagnosis was confirmed by demonstrating elevated urinary glutaric acid and 3-hydroxyglutaric acid levels. Early diagnosis and adequate dietetic therapy can prevent most of the neurological symptoms.
Tài liệu tham khảo
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