The primary genetic defect underlying Krabbe disease or globoid cell leukodystrophy is considered to be a deficiency of galactosylceramide-beta-galactosidase. In the present study of the brains from 18 patients who had died from Krabbe disease at 7-37 months of age, the concentration of galactosylceramide of cerebral and cerebellar white matter was severely reduced to 10-20% of that in age-matc...

A 39 year old Jewish male with a 22 year history of progressive myoclonic epilepsy was found to have Gaucher cells in his sternal bone marrow. The diagnosis of Gaucher's disease was confirmed by the demonstration of beta-glucosidase deficiency in fibroblasts. Although neurological involvement is extremely rare in adults with Gaucher's disease, this disease is another lipidosis which should be c...

Among the modifications occurring in the uremic organism, in addition to the consequences of dialysis, myopathy and peripheral neuropathy are very significant. Children are particularly affected, as their growth and development are jeopardized. Histochemistry of muscular biopsy was used to study eighteen children with end-stage renal failure under dialysis during a ten-month period. According t...

Fatty liver syndrome (Hepatic lipidosis) or fat cow syndrome is a major metabolic disorder in many dairy cattle's in early period of lactation. The aim of this study was to evaluating fatty liver syndrome in dairy cattle in Tabriz by measurement of NEFA and TG serum values. The results showed that NEFA has a direct relationship with TG. Thus, with elevating of NEFA serum values, TG also increased.

Symmetric lipomatosis is definitively characterized by symmetric, tumorous lipomatous proliferation of adipose tissue that often develops in the head and neck, shoulders, and upper trunk. However, in the oral region, symmetric lipomatosis of the tongue (SLT) is an extremely rare condition related to generalized lipidosis that is often caused by chronic alcoholism. It is characterized by multipl...