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AUBF > MIDTERM - METABOLIC DISORDERS > Flashcards

MIDTERM - METABOLIC DISORDERS Flashcards

1
Q

Disruption of enzyme function can be
caused by failure to inherit the gene to produce a particular
enzyme, referred to as an ___.

A

inborn error of metabolism (IEM),

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2
Q

___is capable of screening the infant blood
sample for specific substances associated with particular
IEMs

A

MS/MS - tandem mass spectrophotometry

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3
Q

The most well known of the aminoacidurias,

A

Phenylketonuria

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4
Q

PKU is estimated
to occur in ____ of every 10,000 to 20,000 births

A

1

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5
Q

if undetected, results in severe mental retardation.

A

Phenylketonuria

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6
Q

. It was first identified
in Norway by Ivan Følling in 1934, when a mother with other
mentally retarded children reported a peculiar mousy odor to
her child’s urine

A

Phenylketonuria

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7
Q

PKU/ phenylketonuria is caused by failure to inherit the gene to produce the
enzyme ___.

A

phenylalanine hydroxylase

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8
Q

Urine testing using ___ may be used as a follow up test to ensure proper dietary control in previously diagnosed
cases and as a means of monitoring the dietary intake of pregnant women known to lack phenylalanine hydroxylase

A

ferric chloride

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9
Q

Urine tests for phenylpyruvic acid are based on the ferric chloride reaction performed by tube test. The addition of ferric chloride to urine containing phenylpyruvic acid produces a
permanent __ color

A

blue-green

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10
Q

The accumulation of excess tyrosine in the plasma is called

A

tyrosinemia

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11
Q

tyrosine metabolism may result from _- or __-

A

either inherited or metabolic defects.

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12
Q

because two reactions are directly involved
in the metabolism of tyrosine, the urine may contain excess tyrosine or its degradation products,
__- and ___.

A

p-hydroxyphenylpyruvic
acid and p-hydroxyphenyllactic acid

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13
Q

in tyrosyluria, Most frequently seen is a ___ in premature infants, which is caused by underdevelopment of the liver
function required to produce the enzymes necessary to complete the tyrosine metabolism

A

transitory tyrosinemia

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14
Q

type 1 tyrosenimia
is caused by the deficiency
of the enzyme __

A

fumarylacetoacetate hydrolase (FAH)

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15
Q

type of tyrosinemia that produces a generalized renal tubular disorder and progressive
liver failure in infants soon after birth. T

A

type 1 tyrosinemia

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16
Q

___tyrosinemia is
caused by lack of the enzyme tyrosine aminotransferase.

A

Type 2

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17
Q

a type of tyrosinemia which the Persons develop corneal erosion and lesions on the palms, fingers,
and soles of the feet believed to be caused by crystallization of
tyrosine in the cells

A

Type 2

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18
Q

Type 3 tyrosinemia is caused by lack of
the enzyme ___

A

p-hydroxyphenylpyruvic acid dioxygenase

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19
Q

This type of tyrosinemia can result in mental retardation if dietary restrictions of phenylalanine and tyrosine are not implemented.

A

type 3

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20
Q

second metabolic pathway also exists for
tyrosine. This pathway is responsible for the production of ___

A

melanin, thyroxine, epinephrine, protein, and tyrosine sulfate.

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21
Q

Deficient production of melanin
results in ___.

A

albinism

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22
Q

what are the normal byproducts of tyrosine on its secondary metabolic pathway?

A

melanin, thyroxine, epinephrine, protein, and tyrosine sulfate.

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23
Q

Increased urinary ___ darkens the urine. The darkening appears after the urine is exposed to air.

A

melanin

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24
Q

Elevated urinary
melanin is a serious finding that indicates proliferation of the
normal melanin-producing cells called

A

melanocytes

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25
Q

Elevated urinary
melanin is a serious finding that indicates proliferation of the
normal melanin-producing cells (melanocytes), producing a
malignant __.

A

melanoma

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26
Q

The name ___
was derived from the observation that urine from patients with
this condition darkened after becoming alkaline from standing
at room temperature.

A

alkaptonuria

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27
Q

This metabolic defect is actually
the third major defect in the phenylalanine-tyrosine pathway
and occurs from failure to inherit the gene to produce the
enzyme homogentisic acid oxidase

A

Alkaptonuria

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28
Q

alkaptonuria starts when the patient failed to inherit the gene to produce what enzyme?

A

homogentisic acid oxidase

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29
Q

This condition does not usually manifest itself clinically in early childhood, but observations of brown-stained or black-stained cloth diapers and reddish-stained disposable
diapers have been reported

A

Alkaptonuria

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30
Q

A high percentage of persons with alkaptonuria develop what other organ disorder?

A

liver and cardiac disorders.

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31
Q

homogentisic acid accumulates and deposited in the cartilage can cause ___

– disease under alkaptonuria

A

arthritis

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32
Q

The amino acids involved arfor maple syrup disease are

A

leucine, isoleucine, and valine.

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33
Q

maple syrup disease
\
The metabolic pathway for transamination of the three amino acids in the
liver to the keto acids (____).

A

alpha - ketoisovaleric,
alpha -ketoisocaproic,
and
alpha-keto-beta-methylvaleric

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34
Q

___ may be suspected when urine specimens, and sometimes even the patient, possess a characteristic
odor of “sweaty feet

A

Isovaleric acidemia

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35
Q

This odor is “sweaty feet”caused by the accumulation
of ___ due to a deficiency of enzyme ___ in the leucine pathway

A

isovalerylglycine; isovaleryl coenzyme A

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36
Q

The presence of isovaleric, propionic, and methylmalonic
acidemias can be detected by newborn screening programs
using ___.

A

MS/MS - tandem mass spectrophotometry

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37
Q

other acidemia aside from the isovaleric

A

Propionic and methylmalonic acidemias

38
Q

Propionic and methylmalonic acidemias result from errors
in the metabolic pathway converting isoleucine, valine, threonine, and methionine to ___

A

succinyl coenzyme A.

39
Q

___ is the immediate precursor to methylmalonic acid in this
pathway.

A

Propionic
acid

40
Q

The major concern of the urinalysis laboratory in the metabolism of TRYPTOPHAN is the increased urinary excretion of the
metabolites ____ and ___

A

indican and 5-hydroxyindoleacetic acid (5-HIAA)

41
Q

Early diagnosis of
Hartnup disease is sometimes made when a mother reports a
blue staining of her infant’s diapers, referred to as the “___.”

A

blue
diaper syndrome

42
Q

The inherited defect in Hartnup disease affects not
only the intestinal reabsorption of tryptophan but also the
renal tubular reabsorption of other amino acids, resulting in
a generalized aminoaciduria (____).

A

Fanconi syndrome

43
Q

a second metabolic pathway of
tryptophan is for the production of ___ used in the
stimulation of smooth muscles.

A

serotonin

44
Q

Serotonin is produced from
tryptophan by the __ in the intestine and is carried through the body primarily by the platelets.

A

argentaffin cells

45
Q

A noticeable odor of ___ may be present in the urine of people
with cystine metabolism disorders.

A

sulfur

46
Q

____is marked by elevated amounts
of the amino acid cystine in the urine.

A

cystinuria

47
Q

Regarded as a genuine IEM,

A

cystinosis

48
Q

The presence of increased urinary cystine is not due to a defect in the metabolism
of cystine but, rather, to the ___

A

inability of the renal tubules to re-absorb cystine filtered by the glomerulus

49
Q

The disorder cystinuria has two modes of inheritance

A

One in which reabsorption of all four amino acids—cystine, lysine, arginine, and
ornithine—is affected

and the other is

only cystine and lysine are not reabsorbed

50
Q

Reduction of cystine by sodium
cyanide followed by the addition of nitroprusside produces
a __ color in a specimen that contains excess cystine

A

red-purple

51
Q

Defects in the metabolism of the amino acid methionine produce an increase in ___ throughout the body.

A

homocystine

52
Q

The increased __ can result in failure to thrive, cataracts,
mental retardation, thromboembolic problems, and death

A

homocystine

53
Q

an additional screening test for homocystinuria must be per
formed by following a positive cyanide-nitroprusside test
result with a __ test, in which only homocystine will react

A

silver-nitroprusside test

54
Q

function of silver nitrate to confirm the presence of homocystinuria

A

The use of silver nitrate in place of sodium
cyanide reduces homocystine to its nitroprusside-reactive
form but does not reduce cystine. C

55
Q

__ are the intermediate compounds in the production
of heme

A

Porphyrins

56
Q

three primary porphyrins

A

uroporphyrin, coproporphyrin, and protoporphyrin

57
Q

porphyrin precursors

A

(a-aminolevulinic acid [ALA] and
porphobilinogen)

58
Q

among the primary porphyrins, which one is not seen in urine?

A

protoporphyrin

59
Q

The Centers for Disease Control and Pre
vention (CDC) recommends analysis of whole blood for the presence of __ as a screening test for lead poisoning.

A

free erythrocyte protoporphyrin (FEP)

60
Q

Disorders of porphyrin metabolism are collectively termed
__.

A

porphyrias

61
Q

An indication of the possible presence of ___
is the observation of a red or port wine color to the urine after
exposure to air.

A

porphyrinuria

62
Q

The port wine urine color is more prevalent in
the ___, and staining of the teeth may
also occur

A

erythropoietic porphyrias

63
Q

As seen with other inherited disorders, the presence
of ___ is sometimes suspected from a red discoloration of an infant’s diaper

A

congenital porphyria

64
Q

The two screening tests for porphyrinuria use the __ and ___ under ultraviolet light in the 550- to 600-nm range.

A

Ehrlich reaction and fluorescence

65
Q

test for porphyrinuria

The ___ can be used only for the detection of ALA and porphobilinogen.

A

Ehrlich reaction

66
Q

__ must
be added to the specimen to convert the ALA to porphobilino
gen prior to performing the Ehrlich test.

A

Acetyl acetone

67
Q

Testing for the presence of __is most useful
when patients exhibit symptoms of an acute attack.

A

porphobilinogen

68
Q

Mucopolysaccharides is also called as

A

glycosaminoglycans

69
Q

undigested Mucopolysaccharides are frequently found in the urine in a form of

A

dermatan sulfate, keratan sulfate, and heparan sulfate with the appearance of a particular substance being determined by the specific metabolic
error that was inherited

70
Q

There are many types of mucopolysaccharidoses, but
the best known are

A

Hurler syndrome, Hunter syndrome, and
Sanfilippo syndrome

71
Q

In both Hurler and Hunter syndromes,
the skeletal structure is ___ and there is severe ___;

A

abnormal; mental retardation

72
Q

among the mucopolusaccharidoses which one is the only syndrome that has mental retardation is the only manifstation?

A

Sanfilippo syndrome

73
Q

mucopolysaccharides accumulate in the cornea of the eye.

A

hurler syndrome

74
Q

a mucopolysaccjaridoses that is inherited
as sex-linked recessive and is rarely seen in females

A

Hunter syndrome

75
Q

___ and __ are the most promising treatments for mucopolysaccharidoses

A

Bone marrow transplants and gene replacement therapy

76
Q

A disorder of purine metabolism known as ___

A

Lesch-Nyhan disease

77
Q

a purine disorder that is inherited as a sex-linked recessive results in
massive excretion of urinary uric acid crystals.

A

Lesch-Nyhan
disease

78
Q

In Lesh Nyhan disease,

Failure to inherit the gene to produce the enzyme _____ is responsible for the accumulation
of uric acid throughout the body.

A

hypoxanthine guanine
phosphoribosyltransferase

79
Q

Patients suffer from severe
motor defects, mental retardation, a tendency toward self
destruction, gout, and renal calculi.

A

Lesch-Nyhan
disease

80
Q

first sign is often
uric acid crystals resembling orange sand in diapers.

A

Lesch-Nyhan
disease

81
Q

The presence of increased ____ is most
frequently due to an inherited disorder

A

urinary sugar (melituria)

82
Q

The presence of increased urinary sugar (melituria) is most
frequently due to an inherited disorder. In fact, ____ was
one of Garrod’s original six IEMs.

A

pentosuria

83
Q

Of primary concern is the presence of
___, indicating the inability to properly metabolize
galactose to glucose

A

galactosuria

84
Q

Galactosuria can be caused by a deficiency in any of three
enzymes, ___, ___, and ___

A

galactose-1-phosphate uridyl transferase (GALT),
galactokinase, and UDP-galactose-4-epimerase.

85
Q

Of these enzymes, it is ___ that causes the severe, possibly fatal
symptoms associated with galactosemia

A

GALT deficiency (galactose-1-phosphate uridyl transferase )

86
Q

. a melituria that may be seen during pregnancy and lactation

A

Lactosuria

87
Q

a melituria associated with parenteral feeding

A

Fructosuria

88
Q

a melituria that is associated with ingestion of large amounts of fruit

A

pentosuria

89
Q
A
90
Q
A

AUBF (28 decks)

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