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MT6317 > 02 PROTEINS: aminoacidopathies + protein structure > Flashcards

02 PROTEINS: aminoacidopathies + protein structure Flashcards

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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
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
Tyrosinemia type 2
26
Last of the 5 enzymes important for tyrosine metabolism
FAH
27
First of the 5 enzymes important for tyrosine metabolism
TAT
28
Second of the 5 enzymes important for tyrosine metabolism
HPD
29
Mutated gene in type 3 tyrosinemia
HPD (4-hydroxyphenylpyruvate dehydrogenase)
30
An aminoacidopathy that manifests as impaired mental development, seizures, and some intermittent loss of balance and coordination
Tyrosinemia type 3
31
An aminoacidopathy that manifests as a neurological condition
Tyrosinemia type 3
32
Diagnostic criteria for tyrosinemia
elevated tyrosine conc. using MS/MS elevated succinylacetone conc.
33
Treatment for tyrosinemia
low-protein diet NTBC
34
MOA of NTBC
Inhibits production of succinyl acetone
35
This treatment prevents the formation of maleyacetoacetic acid which converts to succinylacetoacetone
NTBC
36
Mutated gene in alkaptonuria
HGD (homogentisate oxidase)
37
An aminoacidopathy that causes metabolic deficiency in tyrosine and phenylalanine
Alkaptonuria
38
T/F: In alkaptonuria, the symptoms are typically not present until their third decade of life
T
39
Ochronosis is presented in which aminoacidopathy?
Alkaptonuria
40
A manifestation of dark blue-black pigmentation in the urine in alkaptonuria
Ochronosis
41
T/F: alkaptonuria can result to arthritis-like degeneration if accumulated in the cartilage
T
42
The screening test for alkaptonuria consists of a test tube with what reagent?
FeCl
43
The positive result for FeCl test
Black coloration
44
Management of alkaptonuria
Increased vitamin C dosage
45
MOA of increased vitC dosage
slows down accumulation of homogentisate
46
An aminoacidopathy that presents lethargy, vomiting, lack of appetite, failure to thrive within a week
Maple syrup disease
47
The defect in maple syrup disease is the absence of ___
branched-chain a-ketoacid decarboxylase (BCKD)
48
Maple syrup disease occurs one in ___ births
185 000
49
Inheritance pattern of maple syrup disease
autosomal recessive
50
The growth inhibitor for the modified guthrie test for maple syrup disease
4-azaleucine
51
The excitation and fluorescence wavelength required for the microfluorometric assay for maple syrup disease
360 nm - excitation 450 nm - fluorescence
52
Inheritance pattern of isovaleric acidemia (IVD)
autosomal recessive
53
An aminoacidopathy that causes a distinctive odor of sweaty feet
Isovaleric acidemia
54
Treatment for isovaleric acidemia
protein-restrictive diet oral administration of glycine and carnitine
55
Inheritance pattern of homocystinuria
autosomal recessive
56
The lacking enzyme in homocystinuria
systathione B-synthetase
57
The inhibitor used for the modified guthrie test for homocystinuria
L-methionine sulfoximine
58
Treatment for homocystinuria
dietary restriction of proteins high doses of vitB6
59
The amino acid affected in homocystinuria
methionine
60
An aminoacidopathy found in the Japanese population
Citrullinemia type 2
61
A urea cycle disorder that takes place in the liver cells to process excess nitrogen
Citrullinemia
62
The mutated gene in citrullinemia type 1
ASS1 gene
63
The mutated gene in citrullinemia type 2
SLC25A13
64
Treatment of citrullinemia
Arginine supplementation Administration of sodium benzoate and sodium phenylacetate
65
A urea cycle disorder that increases ammonia and damages the liver, nervous system, and causes toxicity to blood
Arginosuccinic aciduria (ASA)
66
T/F: NBS can differentiate all aminoacidopathies
F (in the case of citrullinemia and ASA, NBS cannot)
67
Treatment for ASA
Arginine supplementation Administration of sodium benzoate and sodium phenylacetate
68
Mutated gene in cystinuria
SLC3A1 and SLC7A9
69
An aminoacidopathy characterized by inadequate reabsorption of cystine during urine formation in the kidneys
Cystinuria
70
An aminoacidopathy associated with Fanconi's syndrom
Cystinuria
71
Treatment for cystinuria
Increased fluid intake (4L per day) Penicillamine Percutaneous nephrolithotripsy
72
Screening tests for cystinuria
Urine test using cyanide nitroprusside Ion exchange chromatography
73
Positive result for urine test
Red-purple coloration
74
Enzyme defect in albinisim
tyrosinase
75
Fasting requirement for screening of aminoacidopathy
6-8 hours
76
The urine sample required for screening of aminoacidopathy
first morning specimen
77
Protein structure: refers to the number, type, and sequence of amino acids
primary
78
Protein structure: commonly formed arrangements stabilized by hydrogen bonds between nearby amino acids within the protein molecule
secondary
79
Protein structure: can either by a-helix or b-pleated
secondary
80
Protein structure: represents the strength and flexibility of the protein
secondary
81
Protein structure: overall shape and conformation
tertiary
82
Protein structure: structure that results from the interaction of more than one protein molecule
quaternary

MT6317 (18 decks)

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