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9 Cards in this Set

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Niemann-Pick
Sphingomyelin

Sphingomyelinase

Cherry-red macula
Hepatosplenomegaly
Lymphadenopathy
Fatal early in life
Ashkenazi Jews
Foamy histiocytes
Gaucher's
Glucocerebroside

Glucocerebrosidase

Hepatosplenomegaly
Erosion of long bones
Osteoporosis
Aseptic necrosis of femur
Ashkenazi Jews
Gaucher's cells - macrophages look like crumpled tissue paper
Krabbe's
Galactocerebroside

Galactocerebrosidase

MR - severe
Blindness, deafness, convulsions, paralysis
Due to almost complete absence of myelin
Optic atrophy
Globoid cells
Fatal early in life
Fabry's
Ceramide trihexoside - globoside

Alpha-galactosidase

No MR!
X-linked!
Angiokeratomas in lower extremities (mostly)
Reddish-purple rash
Kidney failure
Heart failure
Metachromic dystrophy
Sulfatides - cerebroside sulfate

Arylsulfatase

MR
Central and peripheral demyelination - ataxia
Later onset psychiatric problems, dementia, and progressive paralysis
Tay-Sach's
GM2 ganglioside

Hexosaminidase

MR
Cherry red macula, blindness
Lysosomes with onion skin
Ashkenazi Jews
Death by age 3
Hurler's
Mucopolysaccharidosis

Deficient alpha-L sulfatase

Accumulation of heparan sulfate and dermatan sulfate

CORNEAL CLOUDING + MR
Developmental delay/dwarfing, gargoylism, airway obstruction, hepatosplenomegaly, no deafness
Hunter's
Mucopolysaccharidosis
X-linked

Deficient iduronate sulfatase

Accumulation of heparan sulfate and dermatan sulfate

NO CORNEAL CLOUDING + MR
Mild version of Hurler's plus aggressive behavior, deafness possible
Sheis's
Mucopolysaccharidosis

Defective alpha-L iduronidase

CORNEAL CLOUDING + NO MR
Aortic valve disease, stiff joints