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?
Correct Answer: Ceramidase
Description: 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.
Category:
Biochemistry
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