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Biochem Prelim 2nd Sem > Phenylketonuria > Flashcards

Phenylketonuria Flashcards

0
Q

Enzyme deficient in phenylketonuria

A

Phenylalanine hydroxylase

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1
Q

most common clinically encountered inborn error of amino acid metabolism

A

Phenylketonuria

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2
Q

In PKU, there is impaired conversion of phenylalanine to

A

Tyrosine

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3
Q

reduced form of phenylpyruvate,

A

Phenyllactate

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4
Q

Hyperphenylalanenemia may also be caused by deficiencies in the enzymes that synthesize or reduce the coenzyme

A

Tetrahydrobioptrein BH4

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5
Q

small fraction of PKU is a result of a deficiency in either

A

dihydropteridine (BH2) reductase or

BH2 synthetase

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6
Q

BH4 is also required for

A

Tyrosine hydroxylase

Tryptophan hydroxylase

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7
Q

due to deficiency of Phynylalanine hydroxylase

A

Type 1 or classical PKU

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8
Q

due to deficiency of dihydrobiopterin reductase

A

Type 2 and 3

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9
Q

due to defects in dihydrobiopterin biosynthesis

A

Type 4and 5

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10
Q

rare disorder of tyrosine catabolism

A

Alkaptonuria

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11
Q

Alkaptonuria deficiency in

A

homogentisic acid oxidase.

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12
Q

Enzyme in conversion of 1st reaction, phenylalanine to tyrosine

A

Phenylalanine hydroxylase

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13
Q

Used in conversion of 1st reaction, phenylalanine to tyrosine

A

O2 and NADH + H

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14
Q

By product in conversion of 1st reaction, phenylalanine to tyrosine

A

NAD+

H2O

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15
Q

Disease in conversion of 1st reaction, phenylalanine to tyrosine

A

PKU

16
Q

Enzyme in 2nd reaction, tyrosine to hydroxyphenylpyruvate

A

Tyrosine aminotransferase

17
Q

Used in 2nd reaction, tyrosine to hydroxyphenylpyruvate

A

Alpha ketoglutarate

18
Q

By product in 2nd reaction, tyrosine to hydroxyphenylpyruvate

A

Glutamate

19
Q

Disease in 2nd reaction, tyrosine to hydroxyphenylpyruvate

A

Tyrosinemia 2

20
Q

Enzyme in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

A

Hydroxyphenyl pyruvate dioxygenase

21
Q

Used in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

A

O2

22
Q

By product in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

A

CO2

23
Q

Disease in 3rd reaction, hydroxyphenyl pyruvate to homogentisate

A

Tyrosinemia 3

24
Q

Enzyme in 4th reaction, homogentisate to maleyacetoacetate

A

Homogentisate 1,2 dioxygenase

25
Q

Used in 4th reaction, homogentisate to maleyacetoacetate

A

O2

26
Q

By product in 4th reaction, homogentisate to maleyacetoacetate

A

H

27
Q

Disease in 4th reaction, homogentisate to maleyacetoacetate

A

Alkaptonuria

28
Q

Last reaction disease

A

Tyrosinemia 1

29
Q

Fumarlyacetoacetate to fumarate

A

Fumaryl acetoacetate

30
Q

Phenylalanine to phenylpyruvate enzyme

A

Aminotransferase

31
Q

Phenylpyruvate leads to

A

Phenyllactate

Phenylacetate

32
Q

Phenylalanine to phenylpyruvate used and by product

A

Pyruvate

Alanine

33
Q

Location of folling disease or PKU

A

Chromosome 12q22-24

34
Q

PKU is inherited

A

Autosomal recessive trait

35
Q

mutation of the enzyme Phenylalanine Hydroxylase

A

Genotype

36
Q

Mental Retardation, Seizures, “Mousy Odor”,

A

Phenotype

37
Q

Alkaptonuria cofactors

A

Fe and O2

38
Q

 Low levels of tyrosine leads to lowered production of the

A

Pigment melanin

Biochem Prelim 2nd Sem (13 decks)

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