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What is A mentally retarded child presenting with hoarseness, frequent dermatitis and skeletal deformities was diagnosed to have Faber's disease. Which of the following enzyme is deficient in this child? and explain in detail?
In Faber's disease there is deficiency of enzyme ceramidase. Infants presents with mental retardation, hoarseness, frequent dermatitis and skeletal deformities. Arylsulfatase A deficiency occur in Metachromatic leukodystrophy. Clinical features includes: mental retardation and psychologic disturbances in adults, demyelination. Beta-Glucosidase occur in Gaucher's disease. Clinical features includes: enlarged liver and spleen, erosion of long bones, mental retardation in infants. Sphingomyelinase occur in Niemann-Pick disease. Clinical features includes: Enlarged liver and spleen, mental retardation. It is fatal in early life. Alpha-Galactosidase occur in Fabry's disease. Clinical features includes: Skin rash and kidney failure. Ref: Botham K.M., Mayes P.A. (2011). Chapter 24. Metabolism of Acylglycerols & Sphingolipids. In D.A. Bender, K.M. Botham, P.A. Weil, P.J. Kennelly, R.K. Murray, V.W. Rodwell (Eds), Harper's Illustrated Biochemistry, 29e.