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MAJOR!!! > disorders > Flashcards

disorders Flashcards

1
Q

inherited errors of metabolism in w/c there is an enzyme defect or a defect in the membrane transport system of AA

A

AMINOACIDOPATHIES

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2
Q

Inherited as an autosomal recessive trait

A

Phenylketonuria

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3
Q

Enzyme absence in phenylketonuria

A

Phenylalanine hydroxylase

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4
Q

Phenylalaline metabolites

A

Phenyl pyruvic acid
Phenyl pyruvate (phenylketone)
Phenyllactate acid

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5
Q

High levels of phenylalanine and it’s metabolites can cause

A

BRAIN PROBLEMS

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6
Q

Phenylketonuria can found in?

A

URINE and BLOOD

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7
Q

URINE: Mousy Odor

A

Phenylketonuria

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8
Q

Retarded mental development and with microcephaly

A

Phenylketonuria

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9
Q

Is not a result of the lack of PAH enzyme.

A

Hyperphenylalaninemia

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10
Q

The defect is the Deficiency in the enzymes needed for the regeneration and synthesis of tetrahydrobiopterin (BH4).

A

Hyperphenylalaninemia

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11
Q

Results in elevated blood levels of phenylalanine and deficient production of neurotransmitters from tyrosine and tryptophan.

A

Hyperphenylalaninemia

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12
Q

Must be identified so that APPROPRIATE treatment of the active cofactor along with the neurotransmitter precursors L-DOPA and 5-OH tryptophan can be initiated.

A

Hyperphenylalaninemia

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13
Q

In phenylketonuria every STATE screens newborns from at about?

A

3 days of age

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14
Q

allows early identification and implementation of treatment

A

Newborn Screening

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15
Q

The goal of PKU treatment is to maintain the blood levels of phenlyalanine between

A

2 to 10 mg/dL.

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16
Q

In phenylketonuria, avoid?

A

High protein foods

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17
Q

In phenylketonuria, take?

A

Calculated amounts of cereals
Starches
Fruits
Vegetables
Milk substitute

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18
Q

First drug to help manage PKU

A

KUVAN

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19
Q

KUVAN in other term?

A

sapropterin dihydrochloride

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20
Q

Help reduce phenylalanine levels by increasing the activity of the PAH enzyme

A

Phenylketonuria

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21
Q

Test perform in phenylketonuria

A

Guthrie Test

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22
Q

Semiquantitative, bacterial inhibition assay for phenylalanine that uses the ability of phenylalanine to facilitate bacterial growth in a culture medium with an inhibitor.

A

Guthrie Test

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23
Q

is able to support bacterial growth but the B-2-thienylalanine inhibits bacterial growth

A

agar gel

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24
Q

Replaced in many areas by newer techniques.

A

Guthrie Test

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25
Q

Can detect a wider variety of congenital diseases

A

Tandem Mass Spectrometry, Gas Chromatography/Mass Spectrometry

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26
Q

For the direct measurement of phenylalanine in dried blood filter disks.

A

Microfluorometric Assay

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27
Q

Yields quantitative results due to infant not being at least 24 hours old

A

Microfluorometric Assay

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28
Q

Reference method for quantitative serum phenylalanine

A

High Performance Liquid Chromatography

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29
Q

Inborn metabolic disorder of tyrosine catabolism which is characterized by the excretion of tyrosine and tyrosine catabolites in urine.

A

Tyrosinemia

30
Q

Mos severe form of this aminoacidopathy.

A

Type I tyrosinemia

31
Q

Type I tyrosinemia is caused by low level of?

A

Fumarylacetoacetate hydrolase

32
Q

Failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, distended abdomen, swelling of legs increased predisposition for bleeding

A

Type I tyrosinemia

33
Q

It can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of cirrhosis or liver cancer later in life.

A

Type I tyrosinemia

34
Q

Type II tyrosinemia is the deficiency of the enzyme

A

Tyrosine aminotransferase.

35
Q

Mental retardation, excessive tearing, photophobia, eye pain, redness ad painful skin lesions of palms and soles of feet

A

Type II tyrosinemia

36
Q

Type III tyrosinemia is the deficiency of the enzyme

A

4- hydroxyphenylpyruvate dioxygenase

37
Q

Mild mental retardation, seizures periodic loss of balance and coordination

A

Type III tyrosinemia

38
Q

prevents formation of maleylacetoacetic acid and fumarylacetoacetic acid w/c can be converted to succinyl acetone

A

Nitisone (NTBC)

39
Q

a toxin that damages liver and kidneys

A

succinyl acetone

40
Q

Inborn metabolic disease transmitted as an autosomal recessive gene.

A

Alkaptonuria

41
Q

Alkaptonuria lack of the enzyme

A

Homogentisate oxidase

42
Q

Urine turns BROWNISH-BLACK when it mixes w/ air.

A

Alkaptonuria

43
Q

HGA gradually accumulates in connective tissue, causing OCHRONOSIS (pigmentation of tissues), arthritis, dark spots on sclera, deposition of pigments in the cartilages of ear, nose and extremities.

A

Alkaptonuria

44
Q

When performing urinalysis, what substances is added to urine, it will turn black.

A

ferric chloride

45
Q

Treatment of alkaptonuria shown to decrease buildup of brown pigment in cartilages and slow the development of arthritis

A

High dose of vitamin C

46
Q

Maple Syrup Urine Disease (MSUD) results from an absence or greatly reduced activity of the enzyme branched-chain

A

a- ketoacid decarboxylase

47
Q

Has Maple Syrup or Burnt Sugar Odor of the urine, breath, and skin.

A

Maple Syrup Urine Disease (MSUD)

48
Q

The result of enzyme defect is accumulation of branched-chain AA and their corresponding ketoacids in the blood, urine and CSF.

A

Maple Syrup Urine Disease (MSUD)

49
Q

Seem normal at birth but will develop within a week LETHARGY, vomiting, lack of appetite and signs of failure to thrive.

A

Maple Syrup Urine Disease (MSUD)

50
Q

Maple Syrup Urine Disease (MSUD) test perform

A

Modified Gutrie test: B. subtilis and 4- azaleucine as inhibitor. Microfluormetric assay

51
Q

Isovaleric Acidemia an autosomal recessive metabolic disorder from a deficiency of the enzyme

A

Isovaleryl-CoA dehydrogenase

52
Q

Sweaty Feet Odor

A

Isovaleric Acidemia

53
Q

SYMPTOMS: Apparent after few days of birth
Failure to thrive
Vomiting
Lethargy seizure
Coma and Death
Some people are asymptomatic

A

Isovaleric Acidemia

54
Q

Isovaleric Acidemia test perform

A

Chromatography.
MS/MS

55
Q

Isovaleric Acidemia Laboratory results reveal

A

Metabolic acidosis
Mild to moderate ketonuria
Hyperammonemia
Thrombocytopenia- low platelets
Neutropenia

56
Q

Homocystinuria is an inherited autosomal recessive disorder of amino acid metabolism that lack of the enzyme

A

Cystathionine-B synthetase

57
Q

Osteoporosis
Dislocated lenses in the eye resulting from lack of
cysteine synthesis and mental retardation.
Multisystemic disorders of the connective tissue, muscles, CNS and bone.
Thrombosis resulting from toxicity of homocysteine to the vascular endothelium is it goes untreated.

A

Homocystinuria

58
Q

Dietary restriction of methionine as well as high doses of vitamin B6.

A

Homocystinuria

59
Q

Trimethylglycine w/ folic acid

A

Homocystinuria

60
Q

Test in homocystinuria

A

Neonatal Screening: Guthrie test w/ L-methionine sulfoximine
High-Performance liquid Chromatography as
confirmatory test: methionine level > than mg/dL.
LC-MS/MS to test for urinary total homocysteine.

61
Q

Inherited in an autosomal recessive pattern. Belongs to a class of genetic diseases called urea cycle disorders.

A

Citrullinemia

62
Q

Type I Citrullinemia metabolic defect caused by the lack of the enzyme

A

Argininosuccinic acid synthetase

63
Q

Lack of appetite
Failure to thrive
Vomiting
Lethargy
Seizure
Coma and Death.

A

Type I Citrullinemia

64
Q

Caused by a mutation of the gene that would otherwise provide instructions for making the protein citrin.

A

Type II Citrullinemia

65
Q

TREATMENT of Type II Citrullinemia

A

High-caloric,
Protein-restrictive diet
Arginine supplementation
Sodium benzoate
Sodium phenylacetate

66
Q

Argininosuccinic Aciduria (ASA) is inherited in an autosomal recessive pattern that also belongs to a class of genetic diseases, the urea cycle disorders lack the enzyme

A

arginosuccinic lyase

67
Q

Argininosuccinic Aciduria (ASA) treatment

A

High-calorie.
Protein-restrictive diet; Arginine supplementation.
Administration of Sodium benzoate and Sodium phenylacetate

68
Q

Inherited autosomal recessive defect. Caused by a defect in the amino acid transport system rather than a metabolic enzyme deficiency.

A

Cystinuria

69
Q

SYMPTOMS:
Hematuria
Pain in the side due to kidney pain
UTI

A

Cystinuria

70
Q

produces a red-purple color on reaction w/ sulhydryl groups

A

cyanide nitroprusside

71
Q

to remove the kidney stone

A

Percutaneous nephrolithotripsy

MAJOR!!! (12 decks)

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