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MT6317 > 02 PROTEINS: aminoacidopathies + protein structure > Flashcards

02 PROTEINS: aminoacidopathies + protein structure Flashcards

1
Q

Class of inherited errors of metabolism in which there is an enzyme defect that inhibits the body’s ability to metabolize certain amino acids

A

Aminoacidopathies

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2
Q

Deficient enzyme in phenylketonuria

A

Phenylalanine hydroxylase

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3
Q

The first newborn test is for ___

A

PKU

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4
Q

In the newborn, the upper limit of normal for phenylalanine concentration in the blood is ___

A

120 umol/L

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5
Q

PKU is due to mutation in the ___ gene

A

PAH

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6
Q

Mild PKU phe level

A

600-1200 umol/L

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7
Q

non-PKU phe level

A

180-600 umol/L

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8
Q

Urine odor for PKU px.

A

Mousy/musty odor

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9
Q

Women with untreated PKU during pregnancy almost always have infants who are ___ and ___ ___

A

microcephalic
mentally retarded

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10
Q

A screening test for PKU that is based on bacterial inhibition

A

Guthrie test

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11
Q

The Guthrie test for PKU is sensitive enough to detect serum phenylalanine concentrations of ___ umol/L

A

180 umol/L

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12
Q

The growth inhibitor for Guthrie test for PKU

A

B-2-thienylalanine

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13
Q

Bacteria used as a control in the Guthrie test

A

Bacillus subtilis

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14
Q

A quantitative direct measurement of phenylalanine

A

Microfluorometric assay

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15
Q

A method of phenylalanine determination that is more adaptable to automation and is not affected by the presence of antibiotics

A

Microfluorometric assay

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16
Q

In the Microfluorometric assay for PKU determination, the wavelengths required are ?

A

360 and 530 nm

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17
Q

Gold standard for PKU screening

A

MS/MS

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18
Q

Treatment for PKU

A

Sapropterin dihydrochloride (Kuvan)

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19
Q

MOA of sapropterin dihydrochloride

A

Enhances phenylalanine hydroxylase

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20
Q

An aminoacidopathy that s caused by deficiencies of different enzymes in the metabolic pathway of tyrosine

A

Tyrosinemia

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21
Q

The mutated gene in tyrosinemia type 1

A

FAH (fumaril-acetoacetate hydrolase) gene

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22
Q

An amoniacidopathy that leads to liver cancer, kidney failure, and peripheral neuropathy

A

Tyrosinemia type 1

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23
Q

Tyrosinemia type 1 causes ___-like odor

A

cabbage

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24
Q

The mutated gene in tyrosinemia type 2

A

TAT (tyrosine-aminotransferase) gene

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25
Q

An aminoacidopathy that manifests as impaired mental development, photophobia, eye pain and redness, and painful skin lesions on the palms and soles of the feet

A

Tyrosinemia type 2

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26
Q

Last of the 5 enzymes important for tyrosine metabolism

A

FAH

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27
Q

First of the 5 enzymes important for tyrosine metabolism

A

TAT

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28
Q

Second of the 5 enzymes important for tyrosine metabolism

A

HPD

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29
Q

Mutated gene in type 3 tyrosinemia

A

HPD (4-hydroxyphenylpyruvate dehydrogenase)

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30
Q

An aminoacidopathy that manifests as impaired mental development, seizures, and some intermittent loss of balance and coordination

A

Tyrosinemia type 3

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31
Q

An aminoacidopathy that manifests as a neurological condition

A

Tyrosinemia type 3

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32
Q

Diagnostic criteria for tyrosinemia

A

elevated tyrosine conc. using MS/MS
elevated succinylacetone conc.

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33
Q

Treatment for tyrosinemia

A

low-protein diet
NTBC

34
Q

MOA of NTBC

A

Inhibits production of succinyl acetone

35
Q

This treatment prevents the formation of maleyacetoacetic acid which converts to succinylacetoacetone

A

NTBC

36
Q

Mutated gene in alkaptonuria

A

HGD (homogentisate oxidase)

37
Q

An aminoacidopathy that causes metabolic deficiency in tyrosine and phenylalanine

A

Alkaptonuria

38
Q

T/F: In alkaptonuria, the symptoms are typically not present until their third decade of life

A

T

39
Q

Ochronosis is presented in which aminoacidopathy?

A

Alkaptonuria

40
Q

A manifestation of dark blue-black pigmentation in the urine in alkaptonuria

A

Ochronosis

41
Q

T/F: alkaptonuria can result to arthritis-like degeneration if accumulated in the cartilage

A

T

42
Q

The screening test for alkaptonuria consists of a test tube with what reagent?

A

FeCl

43
Q

The positive result for FeCl test

A

Black coloration

44
Q

Management of alkaptonuria

A

Increased vitamin C dosage

45
Q

MOA of increased vitC dosage

A

slows down accumulation of homogentisate

46
Q

An aminoacidopathy that presents lethargy, vomiting, lack of appetite, failure to thrive within a week

A

Maple syrup disease

47
Q

The defect in maple syrup disease is the absence of ___

A

branched-chain a-ketoacid decarboxylase (BCKD)

48
Q

Maple syrup disease occurs one in ___ births

A

185 000

49
Q

Inheritance pattern of maple syrup disease

A

autosomal recessive

50
Q

The growth inhibitor for the modified guthrie test for maple syrup disease

A

4-azaleucine

51
Q

The excitation and fluorescence wavelength required for the microfluorometric assay for maple syrup disease

A

360 nm - excitation
450 nm - fluorescence

52
Q

Inheritance pattern of isovaleric acidemia (IVD)

A

autosomal recessive

53
Q

An aminoacidopathy that causes a distinctive odor of sweaty feet

A

Isovaleric acidemia

54
Q

Treatment for isovaleric acidemia

A

protein-restrictive diet
oral administration of glycine and carnitine

55
Q

Inheritance pattern of homocystinuria

A

autosomal recessive

56
Q

The lacking enzyme in homocystinuria

A

systathione B-synthetase

57
Q

The inhibitor used for the modified guthrie test for homocystinuria

A

L-methionine sulfoximine

58
Q

Treatment for homocystinuria

A

dietary restriction of proteins
high doses of vitB6

59
Q

The amino acid affected in homocystinuria

A

methionine

60
Q

An aminoacidopathy found in the Japanese population

A

Citrullinemia type 2

61
Q

A urea cycle disorder that takes place in the liver cells to process excess nitrogen

A

Citrullinemia

62
Q

The mutated gene in citrullinemia type 1

A

ASS1 gene

63
Q

The mutated gene in citrullinemia type 2

A

SLC25A13

64
Q

Treatment of citrullinemia

A

Arginine supplementation
Administration of sodium benzoate and sodium phenylacetate

65
Q

A urea cycle disorder that increases ammonia and damages the liver, nervous system, and causes toxicity to blood

A

Arginosuccinic aciduria (ASA)

66
Q

T/F: NBS can differentiate all aminoacidopathies

A

F (in the case of citrullinemia and ASA, NBS cannot)

67
Q

Treatment for ASA

A

Arginine supplementation
Administration of sodium benzoate and sodium phenylacetate

68
Q

Mutated gene in cystinuria

A

SLC3A1 and SLC7A9

69
Q

An aminoacidopathy characterized by inadequate reabsorption of cystine during urine formation in the kidneys

A

Cystinuria

70
Q

An aminoacidopathy associated with Fanconi’s syndrom

A

Cystinuria

71
Q

Treatment for cystinuria

A

Increased fluid intake (4L per day)
Penicillamine
Percutaneous nephrolithotripsy

72
Q

Screening tests for cystinuria

A

Urine test using cyanide nitroprusside
Ion exchange chromatography

73
Q

Positive result for urine test

A

Red-purple coloration

74
Q

Enzyme defect in albinisim

A

tyrosinase

75
Q

Fasting requirement for screening of aminoacidopathy

A

6-8 hours

76
Q

The urine sample required for screening of aminoacidopathy

A

first morning specimen

77
Q

Protein structure:

refers to the number, type, and sequence of amino acids

A

primary

78
Q

Protein structure:

commonly formed arrangements stabilized by hydrogen bonds between nearby amino acids within the protein molecule

A

secondary

79
Q

Protein structure:

can either by a-helix or b-pleated

A

secondary

80
Q

Protein structure:

represents the strength and flexibility of the protein

A

secondary

81
Q

Protein structure:

overall shape and conformation

A

tertiary

82
Q

Protein structure:

structure that results from the interaction of more than one protein molecule

A

quaternary

MT6317 (18 decks)

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