Deficiency of Acid lipase:-

Deficiency Disease Group Acid maltase Pompe's disease Glycogen storage disease Acid lipase Wolman disease Lysosomal storage disease Wolman disease Not a sphingolipidosis. Cholesterol ester storage disease Lysosomal acid lipase deficiency Triglyceride | C/F Vomiting Watery green diarrhea Hepatosplenomegaly Calcification of adrenals (characteristic feature) Rx- Enzyme replacement therapy Gaucher's disease It is the most common lysosomal storage disorder. It is characterized by the following clinical features: Painless hepatomegaly and splenomegaly Liver cirrhosis Hypersplenism and pancytopenia Bleeding tendencies Bone pain Osteoporosis, pathological fractures Developmental delay, hypeonia, strabismus, supranuclear gaze palsy. Treatment : Enzyme replacement therapy is available in the form of Human recombinant acid b-glucosidase(Imiglucerase) Velaglucerase alfa Taliglucerase alfa Note:Neurological involvement is not seen in type I Gaucher's disease.