Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

ANURBF LEC > [3] LESSON 8: SCREENING FOR METABOLIC DISORDERS > Flashcards

[3] LESSON 8: SCREENING FOR METABOLIC DISORDERS Flashcards

(99 cards)

Start Studying
1
Q

Other name: Overflow

A

Primary Type

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

Other name: Renal

A

Secondary

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

Deficiency: Enzyme

A

Primary Type

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

Deficiency: Congenital defect in AA transport system

A

Secondary

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

AA in blood: Increased

A

Primary Type

Secondary

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

AA in urine: increased

A

Primary
Secondary

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

AA in urine: Decreased

A

Secondary

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

: generalized failure in proximal convoluted tubule reabsorption

A

Fanconi’s Syndrome

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

: failure to inherit a gene that codes for a particular enzyme

A

Inborn Error of Metabolism (IEM)

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

Deficiency in phenylalanine hydroxylase

A

Phenylketonuria

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

Mousy odor with increased pyruvic acid

A

Phenylketonuria

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

Guthrie Bacterial Inhibition Test

A

Phenylketonuria

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

Phenylketonuria Confirmatory test:

A

Ion exchange HPLC

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

Rancid butter odor

A

Tyrosyluria

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

Nitrosonaphthol: orange red

A

Tyrosyluria

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

Tyrosyluria

(-) for a gene that decodes for
Type 1-
Type 2-
Type 3-

A

Fumarylacetoacetate hydrolase (FAH)
Tyrosine aminotransferase
p-hydroxyphenylpyruvic acid dioxygenase

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

May also be seen in patients with severe liver disease

A

Tyrosyluria

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

Deficiency in homogentisic acid oxidase

A

Alkaptonuria

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

Increased homogentisic acid

A

Alkaptonuria

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

Melanuria

Color:__________

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

Urine darkens upon air exposure

A

Melanuria

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

Maple syrup urine odor

A

(a-ketoisovaleric acid, aketoisocaproic acid, aketo-b-methylvaleric acid)

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

Confirmatory Test: Gas/TLC or Nuclear Magnetic Resonance Spectro

A

MSUD

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

Sweaty feet

A

Isovaleric

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Color: indigo blue
Indicanuria
26
Hartnup disease: renal tubular abnormality
Indicanuria
27
Sulfur odor
Cystinuria Cystinosis Homocystinuria
28
*calculus formation
Cystinuria
29
Fanconi’s Syndrome (+ glucose, AA, PO4)
Cystinosis
30
Defects in methionine metabolism
Homocystinuria
31
ALA hydratase def porphyria
ALA synthetase
32
Acute Intermittent porphyria
Uroporphyrinogen synthase
33
Congenital erythropoietic porphyria
Uroporphyrinogen cosynthase
34
Hereditary coproporphyria
Coproporphyrinogen oxidase
35
Porphyria cutanea tarda
Uroporphyrinogen decarboxylase
36
Variegate porphyria
Protoporphyrinogen oxidase
37
PORPHYRIA Specimen:
Urine, stool, blood, bile
38
Detects d-ALA and porphobilinogen
Ehrlich’s Rxn
39
Tests for uroporphyrin, coproporphyrin & protoporphyrin: violet/pink/red
Fluorescence at 550-600 nm
40
CDC-recommended test for Lead Poisoning
FEP
41
- Affect or override tubular reabsorptive capacity of the nephron or failure to inherit a gene required for normal tubular reabsorption
Hereditary and Metabolic Disorders
42
: inherited defect in tubular response to ADH or acquired from medications
Nephrogenic Diabetes Insipidus
43
Testing for many substances is now performed using
Tandem Mass Spectrophotometry (MS/MS)
44
It is capable of screening infant blood sample for specific substances associated with particular IEMs
Tandem Mass Spectrophotometry (MS/MS)
45
A. PHENYLALANINE-TYROSINE AMINOACIDURIAS
Phenylketonuria Tyrosyluria Alkaptonuria Melanuria
46
B. BRANCHED-CHAIN AMINOACIDURIAS
MSUD
47
ORGANIC ACIDEMIAS
Isovaleric Propionic Methylmalonic
48
C. TRYPTOPHAN AMINOACIDURIA
Indicanuria 5-HIAA
49
D. CYSTINE AMINOACIDURIA
Cystinuria Cystinosis Homocystinuria
50
PORPHYRIAS
ALA hydratase def porphyria Acute Intermittent porphyria Congenital erythropoietic porphyria Porphyria cutanea tarda Hereditary coproporphyria Variegate porphyria
51
SCREENING TESTS
Ehrlich’s Rxn Fluorescence at 550-600 nm FEP
52
Phenylketonuria FeCl3:
blue green
53
Phenylketonuria 2,4-DNPH:
yellow
54
The most well-known of the aminoacidurias which may lead to severe mental retardation.
Phenylketonuria
55
Inherited/metabolic defect
Tyrosyluria
56
Tyrosyluria FeCl3:
transient green
57
Increased homogentisic acid
Alkaptonuria
58
Alkaptonuria FeCl3:
transient deep blue
59
Alkaptonuria Clinitest:
yellow ppt
60
Alkaptonuria Alkalinization:
darkening
61
Alkaptonuria Addition of AgNO3 & NH4OH:
red
62
Melanoma
Melanuria
63
Tumors secrete [?] which oxidizes to melanogen then to melanin.
5,6-dihydroxyindole
64
Melanuria FeCl3:
gray/black ppt
65
Melanuria Na Nitroprusside:
red
66
Melanuria Erhlich’s:
red
67
Failure to inherit gene for oxidative decarboxylation
MSUD
68
MSUD 2,4-DNPH:
yellow turbidity/ppt
69
MSUD FeCl3:
green-gray
70
Isovaleryl CoA deficiency
Isovaleric Propionic Methylmalonic
71
Error in the metabolic pathway
Isovaleric Propionic Methylmalonic
72
Methylmalonic p-nitroaniline test:
emerald green
73
Intestinal disorders- obstruction, bacteria, malabsorption
Indicanuria
74
Indicanuria FeCl3:
deep blue/violet
75
Argentaffin cell tumors
5-HIAA
76
>25mg/day
5-HIAA
77
5-HIAA Nitrosonaphthol:
purple to black
78
5-HIAA FeCl3:
blue-green
79
Inability of the tubules to reabsorb cystine
Cystinuria
80
Cystinuria Cynide-nitroprusside test:
red-purple
81
Incomplete cystine metabolism
Cystinosis
82
Cystinosis Cynide-nitroprusside test:
red-purple
83
Homocystinuria Cynide-nitroprusside test:
red-purple
84
: disorders in porphyrin metabolism
PORPHYRIAS
85
Coproporphyrinogen oxidase
Hereditary coproporphyria
86
color reaction of MSUD in FeCl3 test
87
porphyria deficient in protoporphyrinogen oxidase
88
deficiency in homogentisic acid oxidase
89
color of melanuria in Na nitroprusside test
90
bacterial inhibition test for PKU
91
color of PKU in 2,4DNPH
92
odor of urine in isovaleric acidemia
93
mousy odor
94
odor associated with tyrosyluria
95
color of urine in indicanuria
96
POINTS to PONDER..... Shortly after arriving for the day shift in the urinalysis lab, a Medtech notices that an undiscarded urine has a black color. The previously completed report indicates the color to be yellow. Is this observation significant? What two reactions might be seen with the FeCL3 test? What FeCl3 reaction would correlate with a positive Clinitest?
97
PKU, MSUD Cystinuria, Fanconi’s syndrome
Primary Secondary
98
- Affect or override tubular reabsorptive capacity of the nephron or failure to inherit a gene required for normal tubular reabsorption.
Hereditary and Metabolic Disorders
99
: inherited defect in tubular response to ADH or acquired from medications
Nephrogenic Diabetes Insipidus

ANURBF LEC (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions