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Biochemistry Lipoproteins 356414e2

All of the following disorders are inherited in autosomal recessive mode, except:

A
Sandhoff's disease
B
Niemann-Pick disease
C
Gaucher's disease
D
Fabry's disease
High-Yield Explanation
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

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