All of the following disorders are inherited in autosomal recessive mode, except:
Correct Answer: Fabry's disease
Description: All Sphingolipidoses are autosomal recessive except Fabry's which is X- linked recessive Neutral glycosphingolipidoses Disease Deficiency Accumulation Clinical Feature Fabry's disease a-Galactosidase Globotriaosylceramide X-linked recessive Renal failure, Angiokeratomas No Mental retardation Gaucher's disease b-Glucosidase Glucosylceramide No Mental retardation Hepatosplenomegaly, Osteoporosis Niemann-Pick disease Sphingomyelinase Sphingomyelin Mental retardation, Hepatosplenomegaly, death during infancy Sandhoff's disease Hexosaminidase A and B Globoside Macrocephaly Hyperacusis Cherry-red spot
Category:
Biochemistry
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