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Biochemistry > Cramming 5 > Flashcards

Cramming 5 Flashcards

1
Q

What does Ca++/calmodulin do in the muscle with regard to glycogen?

A

Activates glyogen phosphorylase kinase to cause glycogenolysis.

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2
Q

Gaucher’s disease: defective enzyme? mode of inheritance?

A

galactocerebrosidase; AR

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3
Q

Tay-Sachs disease: defective enzyme? accumulated substrate?

A

hexosaminidase; GM2 ganglioside

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4
Q

Gaucher’s disease: Sx?

A

heptospleomegaly, bone crises

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5
Q

Tay-Sachs: Sx?

A

cherry red macular spot, motor retardation, progressive neurodegeneration

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6
Q

Niemann-Pick disease: Sx?

A

progressive neurodegeneration, cherry red macular spot, hepatosplenomegaly

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7
Q

Niemann-Pick disease: defective enzyme?

A

sphingomyelinase

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8
Q

What are the only 2 X-linked recessive lysosomal storage diseases?

A

Fabry’s disease and Hunter’s syndrome

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9
Q

What is the defective enzyme in Fabry’s disease? accumulated substrate?

A

α-galactoside A; ceramide trihexose

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10
Q

What are the Sx of fabry’s disease?

A

peripheral neuropathy, angiokeratomas, CV/renal disease

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11
Q

What sphingolipidosis is associated with “crumpled tissue paper” MΦs?

A

Gaucher’s disease

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12
Q

What are the Sx of Krabbe’s disease?

A

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

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13
Q

What is the defective enzyme, accumulated substrate in Krabbe’s disease?

A

galactocerebrosidase, galactocerebroside

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14
Q

What are the Sx of metachromic dystrophy?

A

central and peripheral demyelination with ataxia, dementia

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15
Q

What is the defective enzyme, accumulated substrate in metachromic dystrophy?

A

Arylsulfatase A; cerebroside sulfate

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16
Q

What are the Sx of Hurler’s syndrome?

A

dev. delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

17
Q

What is the defective enzyme, accumulated substrate in hurler’s syndrome?

A

α-L-iduronidase; heparan sulfate, dermatan sulfate

18
Q

What are the Sx of i-cell disease?

A

similar to hurler’s, recurrent respi tract inf; death by age 7

19
Q

What are the defective enzyme and accumulated substrate in I-cell disease?

A

Glc-NAc phosphotransferase; undegraded glycoconjugates in lysosomes

20
Q

What are the Sx of hunter’s syndrome?

A

Like Hurler’s but milder - corneal clouding + aggressive behavior

21
Q

What is the defect/accumulated substrate in Hunter’s syndrome?

A

Iduronate sulfatase; heparan sulfate, dermatan sulfate

22
Q

What sphingolipidosis is associated w/ foamy macrophages and zebra bodies?

A

Niemann-Pick

23
Q

What sphingolipidosis is associated with onion-skin lysosomes?

A

Tay-Sachs

Biochemistry (26 decks)

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