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Biochemistry by mgcMD > Sphingolipidoses > Flashcards

Sphingolipidoses Flashcards

1
Q

Enzyme deficiency

Hexosaminidase A

A

Tay Sach

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2
Q

Enzyme deficiency

Sphingomyelinase

A

Niemann pick

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3
Q

Enzyme deficiency

Gaucher dse

A

B glucosidase

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4
Q

Enzyme deficiency

Fabry dse

A

a galactosidase

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5
Q

Enzyme deficiency

Metachromatic leukodystrophy

A

Arylsulfatase A

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6
Q

Enzyme deficiency

Krabbe dse

A

B galactosidase

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7
Q

Enzyme deficiency

Farber dse

A

Cermidase

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8
Q

Lipid accumulating

Taysach

A

GM2 ganglioside

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9
Q

Lipid accumulating

Niemann pick

A

Sphingomyelin

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10
Q

Lipid accumulating

Glucosylceramide

A

Gaucher

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11
Q

Lipid accumulating

Fabry dse

A

Globotriaosylceramide

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12
Q

Lipid accumulating

Metachromatic leukodrytrophy

A

3 sulfogalactosylceramide

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13
Q

Lipid accumulating

Krabbe dse

A

Galactosylceramide

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14
Q

Lipid accumulating

Farber dse

A

Ceramide

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15
Q

Mental retardation
Cherry red spot on macula
NO hepatosplenomegaly
Patho: lysosomes with onion skin

Ashkenazi jews

A

Tay sachs

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16
Q

Metal retardation
Cherry red spot macula
Hepatosplenomegaly
Patho: foam cells

A

Niemann pick

17
Q

Most common lsd

A

Gaucher

18
Q

Mental retardation
Erosion of long bones
Hepatosplenomegaly
Patho: Gaucher cells (macrophages that resemble crumpled tissue paper)

A

Gaucher

19
Q

Crumpled tissue-like macrophages

A

Gaucher

20
Q

Reddish purple skinradh
Kidney and heart failure
X linked recessive
Full sx only in males

A

Fabry

21
Q

Progressive paralysis

Cognitive decline, demyelination

A

Metachromatic leukodystrophy

22
Q

Sulfatides form granules that are metachromatic

Nerves stain yellow brown

A

Metachromatic leukodystrophy

23
Q 
Loss of myelin leading to muscle weakness
Feeding fifficulties
Vision loss
Seizures
Mental retardation
A

Krabbe

24
Q

Lipids accumulate in joints (painful joint deformity) with tissue granulomas and subcutaneous nodules
Hoarse cry
Mental retardation
Early death

A

Farber

25
Q

All LSD are autosomal recessive except

A

Fabry

Xlinked recessive

Biochemistry by mgcMD (19 decks)

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