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Biochem > Amino Acid Metabolic Disorders > Flashcards

Amino Acid Metabolic Disorders Flashcards

1
Q

Deficiency in histidase

Speech impediments, hyperactivity, mental retardation

A

Histidinemia

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2
Q

Deficiency in urocanase

Overactive histidase

A

Urocanic aciduria

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3
Q

Deficiency in phenylalanine hydroxylase

Tyr becomes essential

A

PKU

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4
Q

Deficiency in branched-chain a-ketoacid dehydrogenase

Accumulation of Leu, Ile, Val

A

Maple Syrup Urine Disease

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5
Q

Tyrosinase deficiency

Lack of melanin

A

Albinism

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6
Q

Deficiency in cystathionine B-synthase

Methionine accumulation

A

Homocystinuria

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7
Q

Deficiency in homogentistic acid oxidase

Tyr & Phe–>homogentistic acid; buildup of polymers with affinity for collagen

A

Alkaptonuria

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Biochem (29 decks)

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