Deficiency of Acid lipase:-: (A) Fabry disease, (B) Gaucher disease, (C) Farber disease, (D) Wolman disease
Answer is D. 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.