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0 Biochem and Genetics > Amino Acid Disorders > Flashcards

Amino Acid Disorders Flashcards

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Biology 101 flashcards
1
Q

PKU enzyme

A

phenylalanine hydroxylase

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2
Q

dark connective tissue, brown pigmented sclerae

A

alkaptonuria

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3
Q

Becomes essential amino acid in PKU

A

tyrosine needs to be supplemented due to no conversion from phenylalanine

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4
Q

Build up in PKU

A

phenylalanine

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5
Q

Homocystinuria enzyme

A

cystathionine synthase deficiency

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6
Q

Deficiency of tyrosinase

A

albinism

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7
Q

Pigment-forming molecule in alkaptonuria

A

homogentisic acid

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8
Q

Sweetener to avoid in PKU

A

aspartame

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9
Q

Maternal PKU features

A

microceph and intellectual disability
growth retardation
congenital heart defects

lack of PKU therapy during pregnancy (phenylalanine and phenylketone build up is toxic to fetus)

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10
Q

ochronosis

A

alkaptonuria

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11
Q

enzyme in alkaptonuria

A

homogentisic acid oxidase

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12
Q

Features of PKU

A 
growth/mental retardation
seizures
fair skin (no tyrosine --> melanin)
eczema
musty body odor
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13
Q

cystathione synthase deficiency

A

Homocystinuria

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14
Q

PKU cofactor

A

BH4 or tetrahydrobiopterin

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15
Q

musty body odor

A

PKU

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16
Q

urine turns black with prolonged air exposure

A

alkaptonuria

17
Q

Decreased affinity of pyridoxal phosphate to cystathionine synthase

A

Homocystinuria

enzyme requires B6

18
Q

Homocysteine methyltransferase

A

Homocystinuria

19
Q

homogentisic acid is toxic to:

A

cartilage

causes arthralgia in alkaptonuria

20
Q

Neurotoxic effects in PKU due to

A

phenylalanine

21
Q

Marfanoid habitus, lens subluxation, mental retardation

A

homocystinuria

22
Q

Hereditary defect of renal PCT and intestinal amino acid transporter

A

cystinuria

23
Q

in cystinuria, what amino acids are affected? How?

A 
Prevents reabsorption of COLA
Cysteine
Ornithine
Lysine
Arginine
24
Q

Main complication of cystinuria

A

cystine kidney stones

25
Q

Treatment of cystinuria:

A

acetazolamide (alkalinization of urine)

0 Biochem and Genetics (19 decks)

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