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BIOCHEM LEC > Sphingolipidoses > Flashcards

Sphingolipidoses Flashcards

1
Q

DISEASE

Mental retardation, blindness, muscular weakness

A

Tay-Sachs disease

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2
Q

DISEASE

Skin rash, kidney failure (full symptoms only in males; X-linked recessive

A

Fabry disease

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3
Q

DISEASE

Mental retardation and psychologic disturbances in adults; demyelination

A

Metachromatic
leukodystrophy

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4
Q

DISEASE

Mental retardation; myelin almost absent

A

Krabbe disease

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5
Q

DISEASE

Enlarged liver and spleen, erosion of long bones, mental retardation in infants

A

Gaucher disease

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6
Q

DISEASE

Enlarged liver and spleen, mental retardation; fatal in early life

A

Niemann-Pick disease types A, B

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7
Q

DISEASE

Hoarseness, dermatitis, skeletal deformation, mental retardation; fatal in early life

A

Farber disease

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8
Q

ENZYME DEFICIENCY

Tay-Sachs disease

A

Hexosaminidase A, S

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9
Q

ENZYME DEFICIENCY

Fabry disease

A

α-Galactosidase

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10
Q

ENZYME DEFICIENCY

Metachromatic leukodystrophy

A

Arylsulfatase A

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11
Q

ENZYME DEFICIENCY

Krabbe disease

A

β-Galactosidase

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12
Q

ENZYME DEFICIENCY

Gaucher disease

A

β-Glucosidase

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13
Q

ENZYME DEFICIENCY

Niemann-Pick disease types A, B

A

Sphingomyelinase

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14
Q

ENZYME DEFICIENCY

Farber disease

A

Ceramidase

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BIOCHEM LEC (29 decks)

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