The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

IN 1954 Sawitsky, Hyman and Hyma& described a lipid storage disorder in two young adults characterized by the presence in the bone marrow smears of large histiocytes with a distinctive blue staining granular cytoplasm. Subsequently, three additional cases have been reported and in this article a sixth case is presented along with a discussion of various aspects of the disorder.24 CASE REI'oRT T...

anderson-fabry disease is a rare inherited x-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase a. hereby we report a 39 year old male that presented with proteinuria and edema. histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  fabry disease in associate with iga nephropathy. fabry's disease associated wit...

the effects of uv-c illumination at the dosage of 6.6 kj m-2 on postharvest quality of mango fruit cv. ‘kaew kamin’ during storage at 25 or 12°c were investigated. the changes in fresh weight, texture, ripening index (ri), peel and pulp colours, visual appearance, total carotenoids (tc) and ascorbic acid (asa) content were determined on days 0, 4, 8, 12 and 16 of storage. uv-c irradiation effec...

  Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...

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 diagnos...