4 research outputs found

    Unexplained High Activity of Aspartate Aminotransferase in an Asymptomatic Pediatric Patient

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    Elevated enzyme activities in plasma may at times be attributed to the presence of macro-enzymes. The macro-enzymes are often serum enzymes in complex with immunoglobulins, resulting in a greater molecular mass that cannot be filtered by renal glomeruli and are, hence, retained in the plasma. The aspartate aminotransferase (AST) can exist as a macro-enzyme, although it has been rarely reported. We describe a pediatric patient with persistently elevated serum AST activity, due to macro-enzyme formation between AST and an immunoglobulin. This is to highlight the importance of early diagnosis of macro-AST in an otherwise asymptomatic pediatric patient with isolated AST-elevation and to avoid unnecessary costly testing

    Report of Four Children with Gaucher Disease and Review of Literature

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    Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnosis of the disease in order to initiate the appropriate therapeutic management to help prevent further progression of the disease
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