Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

ANURBF > Metabolic Disease > Flashcards

Metabolic Disease Flashcards

1
Q

Result from disruption of a normal metabolic pathway that causes increased plasma concentrations of arz the non-metabolized substances; over ride reabsorption ability of the tubules are not normally reabsorbed from the filtrate

A

Overflow

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Due to defective tubular reabsorption of amino acids

A

Renal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Tubules in
the nephron are no longer reabsorbing certain amino acids

A

Renal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Failure to inherit a gene that codes for a particular enzyme

A

Inborn error of metabolism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Testing for many substances is now performed using

A

Tandem Mass Spectrophotometry

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

It is capable of screening infant blood sample for specific substances associated with particular IEMs

A

Tandem Mass Spectrophotometry (MS/MS).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Homogentisic acid color

A

Black

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Affect the color tho not directly

A

Melanin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Indican color

A

Dark/bluish color

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Porphyrins color

A

Pink to reddish brown or purple

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Most well known of the aminoacidurias

A

Phenylketonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Most well known of the aminoacidurias

A

Phenylketonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Phenylketonuria: negative for the gene that codes for?

A

Phenylalanine hydroxylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Phenylketonuria: negative for the gene that codes for

A

Phenylalanine hydroxylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Screnung test for pku

A

FeCl3 tube tes
Phenistix strip

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Pku: FeCl3 positive color

A

Blue green color

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Pku: phenistix color

A

Gray to gray green color

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

GBIT: B.subtilis is cultured with?

A

Beta-2-thienylalanine (TE)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

counteracts the action of B2-TE

A

Phenylalanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Guthrie bacterial inhibition test aka

A

Guthrie’s microbial inhibition assay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Most well known teit for phenylketonuria

A

Guthrie bacterial inhibition test’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Blood sample from the heel stick and placed on filter paper disc
• placed in culture media incorporated with Beta-2-thienylalanine which serves as an inmoitor for B-subtilis
(+): Growth of the organism

A

Guthrie bacterial inhibition test’

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

accumulation of excess tyrosine in the plasma (tyrosinemia)
producing urinary overflow

A

Tyrosyluria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Tyrosyluria: (-) for a gene that decodes for:
Type 1:

A

Fumarylacetoacetate hydrolase (FAH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Tyrosyluria: (-) for a gene that decodes for:
Type 2:

A

Tyrosine aminotransferase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Tyrosyluria: (-) for a gene that decodes for:
Type 3:

A

p-hydroxyphenylpyruvic acid dioxygenase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

• May also be seen in patients with severe liver disease (will produce tyrosine and leucine crystals)

A

Tyrosyluria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Tyrosyluria odor

A

Rancid butter odor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Screening for tyrosyluria

A

Nitrosonaphthanol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Tyrosyluria confirmatory test

A

Chromatography

31
Q

Deficiency in homogentisic acid oxidase

A

Alkaptonuria

32
Q

Increased homogentisic acid

A

Alkaptonuria

33
Q

Produces brown pigment deposits in body tissues that
can lead to arthritis, and liver and cardiac problems.

A

Homogentisic acid in Alkaptonuria

34
Q

Screening test for alkaptonuria

A

Ferric chloride tube test
• Benedict’s test
• Alklinization of fresh urine

35
Q

Increased urinary melanin that produces a darkening of urine

A

Melanuria

36
Q

Indicates malignant melanoma

A

Melanuria

37
Q

Urine color in melanuria

A

Black urine

38
Q

Screening for melanuria

A

Screening:
• FeCl tube test
• Sodium nitroprusside test
• Ehrlich test

39
Q

The branched-chain amino acids differ from other amino acids by having a______ that branches from the main aliphatic carbon chain

A

methyl (-CH3) group

40
Q

Two major groups of branched chain aminoaciduria

A

Two major groups:
Accumulation of one or more of the early amino acid degradation products (ex MSUD*
Accumulation of organic acids produced further down in the amino acid metabolic pathway -Organic acidemias /

41
Q

Clinical findings of Branched-Chain Aminoacidurias

A

Ketonuria

42
Q

Organic acidemias

A

Isovaleric Acidemia

Propionic Acidemia
Methylmalonic Acidemia

43
Q

Most common IEM in the Philippines

A

Maple syrup urine disease

44
Q

MSUD: negative Gene that codes for the enzyme for metabolism of the ketoacids of

A

Leucine, isoleucine, valine

45
Q

Causes severe mental retardation, convulsions, acidosis, and
hypoglycemia if untreated
- Death occurs during first year

A

MSUD

46
Q

Screening for msud

A

Screening:
• 2,4-dinitrophenylhydrazine
• FeCl3 tube test

47
Q

Organic acidemia general symptom

A

Hypoglycemia
• Ketonuria; and
• increased serum ammonia

48
Q

Most commonly encountered disorders: organic acidemias

A

Isovaleric acidemia
Propionic axidemia
Methylmalonic acidemia

49
Q

Increased urinary excretion of the metabolites indican and 5-
hydroxyindoleacetic acid

A

Tryptophan Aminoaciduria

50
Q

Usually seen in cases of argentapenoma where there is an

A

Tryptophan Aminoaciduria

51
Q

which is a metabolite in
serotonin

A

5-hydroxyindoleacetic acid

52
Q

Increased amounts of tryptophan are converted to indole

A

Indicanuria

53
Q

Seen in intestinal disorders

A

Indicanuria

54
Q

blue diaper syndrome - rare inherited
disorde

A

Hartnup disease

55
Q

Indicanuria urine color

A

Indigo blue

56
Q

Indicanuria factors

A

Obstruction
• Presence of abnormal bacteria
• Hartnup disease

57
Q

Screening test for indicanuria

A

Obermayer’s test

58
Q

Degradation product of serotonin

A

5-hydroxyindoleacetic acid

59
Q

Serotonin is produced
from tryptophan by—- in the —

A

Argentaffin cells in the intestine

60
Q

Argentaffin cell tumors

A

5-hydroxyindoleacetic Acid

61
Q
  • A condition marked by elevated amounts of the amino acid
    cystine in the urine
  • Due to the inability of the renal tubules to reabsorb cystine
    filtered by the glomerulus
A

Cystinuria

62
Q

Cystinuria defective reabsorption of what?

A

Cystine, ornithine, leucine, arginine

63
Q

Cystinuria odor

A

Sulfur odor

64
Q

(-) gene that codes for an enzyme responsible for cystine
metabolism
- Cystine deposits in many areas of the body (BM, cornea,
Lymph nodes, and internal organs)

A

Cystinosis

65
Q

Test for cystinuria and cystinosis

A

Brand’s modification of Legal’s nitroprusside test

66
Q

Rgt of Brand’s modification of Legal’s nitroprusside test

A

Cyanide nitroprusside

67
Q

Defect in the metabolism of the amino acid methionine

A

Homocystinuria

68
Q

Homocystinuria is negative for that gene that codes for the enzyme

A

Cystathione beta synthase

69
Q

Accumulation of incompletely metabolized polysaccharide
portions in the lysosome

A

Mucopolysaccharide Disorders

70
Q

mucopolysaccharides accumulate in the cornea;
skeletal structure abnormality and severe mental retardation

A

Hurler

71
Q

skeletal structure abnormality and severe mental
retardation

A

Hunter

72
Q

mental retardation only

A

Sanfilippo

73
Q

White turbidity

A

Cetylmethylammonium bromide twst

74
Q

massive excretion of uric acid crystals
in the urine caused by the failure to inherit the gene to
produce hypoxantine guanine and
phosphoribosyltransferase; “orange sand” in diaper

A

Lesch nyhan disease

ANURBF (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions