Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Ascites is the accumulation of fluid (usually serous fluid which is a pale yellow and clear fluid) in the abdominal (peritoneal) cavity. The abdominal cavity is located below the chest cavity, separated from it by the diaphragm. Ascitic fluid can ...

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and resu...

Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorpti...