Enzyme deficiency in Farber disease is
Correct Answer: Hexosaminidase A
Description: DiseaseEnzyme deficiencyClinical symptomsTay-Sachs diseaseHexosaminidase AMental retardation, blindness, muscular weaknessFabry diseasea-GalactosidaseSkin rash, kidney failure (full symptoms only in males;X-linked recessive)MetachromaticleukodystrophyArylsulfatase AMental retardation and psychologic disturbances inadults; demyelinationKrabbe diseaseb-GalactosidaseMental retardation; myelin almost absentGaucher diseaseb-GlucosidaseEnlarged liver and spleen, erosion of long bones,mental retardation in infantsNiemann-PickdiseaseSphingomyelinaseEnlarged liver and spleen, mental retardation;fatal in early lifeFarber diseaseCeramidaseHoarseness, dermatitis, skeletal deformation,mental retardation; fatal in early lifeRef: Harper&;s Biochemistry; 30th edition; Chapter 24 Metabolism of Acylglycerols & Sphingolipids
Category:
Biochemistry
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