Hepatospleenomegalv with Foam cells is characteristically seen in a Lysosomal disorder. This disorder is due to the deficency of
Correct Answer: Sphingomyelinase
Description: (A) Sphingomyelinase # Sphingomyelinase Converts Lipoproteins From Apolipoprotein> Deficiency, sphingomyelinase: Also called Niemann-Pick disease, this is a disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), "swollen glands" (lymphadenopathy), anemia and mental and physical deterioration.> Typical cells (called Niemann-Pick cells)that have a foamy appearance due to their storage of sphingomyelin are found in the bone marrow, spleen and lymph nodes.> Neurological features of Niemann-Pick disease include mental retardation, spasticity, seizures, jerks, eye paralysis (ophthalmoplegia) and ataxia (wobbliness). Physical growth is retarded.> Gastrointestinal features include hepatosplenomegaly, jaundice, hepatic (liver) failure, and ascites (fluid in the abdomen).> Eye hallmarks of Niemann-Pick disease include the "cherry red spot" in the macula in the center of the retina, opacity of the cornea and brown discoloration of the lens capsule. Respiratory problems include pulmonary infiltration.> Coronary artery disease occurs early. There is easy bruising.
Category:
Biochemistry
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