Which of the following disease is a lysosomal storage disease that is associated with the synthesis of abnormal myelin?
Correct Answer: Metachromatic leukodystrophy
Description: Metachromatic leukodystrophy is a lysosomal storage disease associated with the synthesis of abnormal myelin. The term leukodystrophy refers to the abnormality in myelin synthesis. Metachromatic leukodystrophy is an autosomal recessive disease characterized by an arylsulfatase. A deficiency, leading to the accumulation of sulfatides in lysosomes that stain positively with periodic acid-Schiff stain and various metachromatic stains. The clinical findings include various visceral lesions, mental retardation, peripheral neuropathy, and abnormal myelination in the central nervous system associated with reactive gliosis. It is diagnosed by the absence of arylsulfatase A in the urine. Tay-Sachs disease is an autosomal recessive GM2 gangliosidosis characterized by a hexosaminidase ( subunit) deficiency and an accumulation of GM2 ganglioside in lysosomes. It is commonly found in Ashkenazi Jews, in which there is a 1 in 30 carrier rate. The patients are normal at bih but develop abnormalities by 6 months of age, including severe mental retardation, blindness (cherry red spot in the macula), and muscle flaccidity. The lipid has a whorled configuration in lysosomes when viewed by electron microscopy. It is a uniformly fatal disease. Niemann-Pick disease is an autosomal recessive lysosomal storage disease associated with a sphingomyelinase deficiency and the accumulation of sphingomyelin in macrophages and neurons. The type A variant is most common. It is characterized by severe mental retardation, hepatosplenomegaly, deterioration of psychomotor function, and foamy macrophages. Zebra bodies are noted in the lysosomes when viewed by electron microscopy. The disease is fatal in early life. Ref : Biochemistry by U. Satyanarayana 3rd edition Pgno : 281
Category:
Biochemistry
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