GLYCOGEN STORAGE DISEASE Flashcards

1
Q

rare conditions the affected individual can’t use or store glycogen properly

A

GLYCOGEN STORAGE DISEASE

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2
Q

Body creates glycogen from glucose through a
process called?

A

glycogenesis

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3
Q

When your body needs extra fuel, it breaks
down glycogen for use through a process called?

A

glycogenolysis

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4
Q

What is the unique sign and symptom of Glycogen Storage Disease?

A

Hyperphagia

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5
Q

It is a type of Glycogen Storage Disease that has a unique historical significance.

A

Pompe Disease

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6
Q

Black Urine Disease
Black Bone Disease

A

ALKAPTONURIA

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7
Q

Inhibits the body from completely breaking down two protein building blocks (amino acids) named tyrosine and phenylalanine

A

Alkaptonuria

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8
Q

What are the the inhibited protein in Alkaptonuria?

A

Tyrosine and Phenylalanine

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9
Q

Alkaptonuria is the disease that is caused by?

A

Homogentisic dioxygenase

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10
Q

It is the first Mendelian disorders to be identified and discovered by Archibald Garrod in 1902.

A

Alkaptonuria

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11
Q

William Osler described Alkaptonuria as?

A

Rare anomaly

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