PLE 2017: Biochemistry > Proteins > Flashcards

Proteins Flashcards

(7 cards)

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1
Q

Maple Syrup Disease

A

Alpha-Ketoacid Dehydrogenase Deficiency

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2
Q

Affected AA in Methylmalonyl-CoA-Mutase Deficiency

A

Valine, Isoleucine, Threonine, Methionine

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3
Q

Cystinuria

A

Defective transporters for Cystine, Ornithine, Lysine, and Arginine in PCT

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4
Q

Homocystinuria

A

Decreased clearance of Methionine and Homocysteine

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5
Q

Albinism

A

Decreased copper-dependent tyrosinase; defective tyrosine receptors

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6
Q

Alkaptonuria

A

Homogentisate Oxidase Deficiency

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7
Q

Phenylketonuria

A

Phenylalanine hydroxylase or Tetrahydrobiopterin deficiency

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PLE 2017: Biochemistry
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