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CC LEC 1 MIDTERMS > AMINOACIDOPATHIES > Flashcards

AMINOACIDOPATHIES Flashcards

1
Q

Rare, inherited disorders of amino acid metabolism

A

AMINOACIDOPATHIES

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2
Q

2 abnormalities in AMINOACIDOPATHIES

A

Specific enzyme (defect or deficiency) in metabolic pathway or membrane transport system

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3
Q

PHENYLKETONURIA (PKU) is the Total absence of activity of ___

A

PHENYLALANINE HYDROXYLASE

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4
Q

PHENYLALANINE HYDROXYLASE catalyzes the conversion of
phenylalanine to ___

A

tyrosine

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5
Q

There is an accumulation of levels of Phenylalanine and its metabolites (eg. phenylpyruvic acid, phenylpyruvate also known as phenylketone, and phenylacetic

A

PHENYLKETONURIA (PKU)

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6
Q

Increase of Phenylalanine on the blood

A

Hyperphenylalaninemia

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7
Q

There is a presence of Phenylalanine in the Urine

A

Phenylketonuria

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8
Q

The presence of Phe in urine happens because it surpases the amount of proteins or metabolites that the kidney can filter or what we call ___

A

Renal Threshold

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9
Q

Phenylketonuria causes the urine to have a characteristic ___ odor.

A

“musty” or “mousy”

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10
Q

Complications in infants and children with Phenylketonuria

A

retarded mental development and microcephaly

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11
Q

Fetal effects of maternal PKU are preventable
if the mother maintains a ___ before conception and throughout pregnancy.

A

phenylalanine-restricted diet

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12
Q

Metabolites of Phenylalanine

A

Phenylpyruvate, Phenylacetic acid, Phenylacetylglutamine

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13
Q

is derived from the deamination of phenylalanine

A

Phenylpyruvate

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14
Q

Decarboxylation and Oxidation of Phenylpyruvate

A

Phenylacetic acid

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15
Q

Occurs as a result of the toxic effects of the brain of phenylpyruvate or
one of its metabolic by-products

A

Retarded mental development

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16
Q

Retarded mental development occurs in what week of life

A

2nd or 3rd week of life

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17
Q

glutamine conjugate of phenylacetate

A

Phenylacetylglutamine

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18
Q

a semiquantitative, bacterial inhibition assay for phenylalanine based on the ability of phenylalanine to facilitate bacterial growth in a culture medium despite the presence of a growth inhibitor.

A

Guthrie Bacterial Inhibition Assay

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19
Q

in Guthrie Bacterial Inhibition Assay, spores of __ are incorporated into an agar plate that contains ___ (antagonist or inhibitor)

A

Bacillus subtilis; beta-2- thienylalanine

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20
Q

If blood phenylalanine exceeds
___ mg/dL, phenylalanine
counteracts the antagonist
and bacterial growth occurs

A

3-4

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21
Q

In Guthrie Bacterial Inhibition
Assay:
Presence of Bacterial Halo = __
Absence of Bacterial Halo = __

A

Positive
Negative

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22
Q

direct measurement of
phenylalanine in dried blood
filter disks

A

Microfluorometric assay

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23
Q

Microfluorometric assay in phenylketonuria is based on the ___ of a
complex formed of
___ in
the presence of a dipeptide ___

A

fluorescence; phenylalanine-ninhydrin-copper; Lleucyl-L-alanine

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24
Q

in Microfluorometric assay in phenylketonuria:
Excitation wavelengths = ___
emission wavelengths = ___

A

360 nm
530 nm

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25
Q

Microfluorometric assay in Phenylketonuria requires pretreatment of the dried blood filter disk with ___

A

trichloroacetic acid (TCA)

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26
Q

The reference method or standard method for detecting PKU

A

High-Performance Liquid Chromatography (HPLC)

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27
Q

In High-Performance Liquid Chromatography (HPLC), phenylketonuria is detected in newborn’s blood in ___ mg/dL

A

1.2 -3.4 mg/dl (70/200 umol/L)

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28
Q

in Microfluorometric Assay, the microtiter plate is made of a mixture of ___, ____, ___ in the presence of ___.

A

ninhydrin, succinate, and leucylalanine; copper tartrate

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29
Q

Used for Monitoring in phenylketonuria and a Reagent Strip Test

A

Urine Test

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30
Q

Urine Test involves the reaction of ___ with __ in urine to produce a ___ color

A

ferric chloride; phenylpyruvic acid; green

31
Q

Characterized by excretion of tyrosine and tyrosine catabolites in urine

A

TYROSINEMIA

32
Q

is the most severe form
of TYROSINEMIA

A

Type I Tyrosinemia

33
Q

a type of Tyrosinemia which symptoms are failure to thrive, diarrhea, vomiting, jaundice, a cabbage-like odor, distended abdomen, swelling of the legs, and an increased predisposition for bleeding.

A

Type I Tyrosinemia

34
Q

complications of tyrosinemia

A

Leads to liver damage (Cirrhosis and liver cancer)

35
Q

type 3 tyrosinemia enzyme deficiency

A

4-hydroxy-phenylpyruvic acid oxidase

36
Q

type 1 tyrosinemia enzyme deficiency

A

Fumarylacetoacetate (FAA) hydrolase

37
Q

type 2 tyrosinemia enzyme deficiency

A

tyrosine aminotransferase

38
Q

ALKAPTONURIA is the lack of ___

A

homogentisate oxidase

39
Q

homogentisic acid (HGA) accumulates in connective tissue
causing generalized pigmentation
of these tissues called ___, an
arthritis-like degeneration

A

Ochronosis

40
Q

Accumulation of homogentisic acid (HGA) is characterized by ___ of urine

A

darkening

41
Q

2 clinical manifestations of alkaptonuria

A

ochronosis and darkening of urine

42
Q

Familial inheritance aminoacidopathy

A

ALKAPTONURIA

43
Q

elevated concentrations of homogentisic acid (HGA) in the blood

A

alkaptonuria

44
Q

Characterized by burnt sugar odor of the urine, breath, and skin

A

MAPLE SYRUP URINE DISEASE

45
Q

MAPLE SYRUP URINE DISEASE lacks the enzyme ___

A

branched-chain alpha-ketoacid decarboxylase

46
Q

alpha-ketoacid decarboxylase blocks the normal metabolism of

A

Leucine, Isoleucine and Valine

47
Q

COMPLICATIONS:
Lethargy, failure to thrive, Muscle rigidity, Respiratory irregularities,
Mental retardation, Convulsions, Acidosis and hypoglycemia

A

MAPLE SYRUP URINE DISEASE

48
Q

in Microfluorometric assay in MAPLE SYRUP URINE DISEASE, pretreatment used are

A

solvent mixture of methanol and acetone

49
Q

in Microfluorometric assay in MAPLE SYRUP URINE DISEASE, extract used is

A

Leucine dehydrogenase

50
Q

in Microfluorometric Assay in Maple Syrup Disease:
excitation wavelength = ___
emission wavelength = ___

A

360 nm
450 nm

51
Q

above __ mg/dL is indicative of MAPLE SYRUP URINE DISEASE

A

4

52
Q

ISOVALERIC ACIDEMIA
is the deficiency of ___ in leucine pathway

A

isovaleryl-CoA dehydrogenase

53
Q

odor of urine in ISOVALERIC ACIDEMIA

A

sweaty feet

54
Q

in HOMOCYSTINURIA, there is an increase in ___

A

homocysteine

55
Q

Intermediate amino acid in the synthesis of cysteine from
methionine

A

Homocysteine

56
Q

In homocystinuria, there is an impaired activity of ___ which converts homocysteine to
___

A

cystathionine beta-synthase; cysteine

56
Q

– Cysteine and homocysteine are reduced by sodium cyanide to
free-thiol
– Then, reacted to sodium nitroprusside to produce a ___color

A

Cyanide-Nitroprusside Urine Spot Test; red-purple

57
Q

Confirmation for homocysteine
* Silver nitrate reduces homocysteine to form __ color

A

Silver-nitroprusside Test; reddish

58
Q

COMPLICATIONS:
– Thromboembolism, Cardiovascular risk, Atherosclerotic
disease, Low folate concentrations, Vitamin B12 deficiency

A

HOMOCYSTINURIA

59
Q

2 diseases that results from inherited enzyme deficiencies in the urea cycle

A

CITRULLINEMIA and ARGININOSUCCINIC ACIDURIA

60
Q

TYPE 1 CITRULLINEMIA lacks the enzyme ___

A

argininosuccinic acid synthetase (ASS)

60
Q

complications of citrullinemia

A

Vomiting, high ammonia levels and Mental retardation

60
Q

caused by a mutation of the gene that would provide instructions for
making the protein citrin

A

TYPE 2 CITRULLINEMIA

60
Q

lack of __ inhibits the urea cycle and disrupts the production of proteins and
nucleotides and this happens in what type of disease?

A

citrin; Type II Citrullinemia

61
Q

in Type I Citrullinemia, there is an increase in ___ and it will not be converted to ___

A

citrulline; arginosuccinic acid

62
Q

The resulting accumulation of ___ and other toxic substances in citrullinemia leads to confusion, restlessness, memory loss, personality changes, seizures, and coma

A

ammonia

63
Q

deficiency in argininosuccinate lyase (ASL) prevents the conversion of argininosuccinic acid into ___

A

arginine

63
Q

in ARGININOSUCCINIC ACIDURIA, there is deficiency in ___

A

argininosuccinate lyase (ASL)

63
Q

a defect in the amino acid transport system rather than a metabolic
enzyme deficiency

A

CYSTINURIA

63
Q

ARGININOSUCCINIC ACIDURIA complications

A

Vomiting, high ammonia levels and Mental retardation

63
Q

in ARGININOSUCCINIC ACIDURIA, there is accumulation of __

A

argininosuccinate

64
Q

in cystinuria, there is Increased urinary excretion of ___

A

cystine

65
Q

Increased urinary excretion of cystine resulting from genetic defect in the ___

A

renal resorptive mechanism

66
Q

Cystine is insoluble and tends to precipitate in the kidney tubules and cause ___

A

URINARY CALCULI or kidney stones

CC LEC 1 MIDTERMS (3 decks)

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