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MTAP1: AUBF > CHAPTER 9: UA FOR METABOLIC DISORDERS > Flashcards

CHAPTER 9: UA FOR METABOLIC DISORDERS Flashcards

1
Q

These are amino acid disorders (9)

A
  • Phenylketonuria (PKU)
  • Tyrosyluria
  • Melanuria
  • Alkaptonuria
  • Maple syrup urine disease (MSUD)
  • Organic acidemias
  • Indicanuria
  • Cystinosis
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2
Q

Overflow inherited disorders

A
  • Phenylketonuria
  • Tyrosinemia
  • Alkaptonuria
  • Maple syrup urine disease
  • Organic acidemias
  • Cystinosis
  • Porphyria
  • Mucopolysaccharidoses
  • Galactosemia
  • Lesch-Nyhan disease
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3
Q

Metabolic disorders

A
  • Infantile tyrosinemia
  • Melanuria
  • Indicanuria
  • 5-Hydroxyindoleacetic acid
  • Porphyria
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4
Q

Renal disorders

A
  • Hartnup disease
  • Cystinuria
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5
Q

Results from disruption of
a normal metabolic pathway

A

Overflow disorders

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6
Q

Causes increased plasma
concentration of the non-metabolized substances.

A

Overflow disorders

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7
Q

Failure to inherit gene to produce a particular enzyme

A

Inborn Error of Metabolism (IEM)

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8
Q

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

A

Tandem mass spectrophotometry (MS/MS)

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9
Q

Major inherited disorders (Phenylalanine-Tyrosine Disorders)

A
  1. PKU
  2. Alkaptonuria
  3. Tyrosyluria
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10
Q

Most well-known of the aminoacidurias. Occurs in 1 OF EVERY 10,000 TO 20,000 BIRTHS and undetected, can lead to severe mental retardation

A

Phenylketonuria (PKU)

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11
Q

Phenylketonuria (PKU) is identified by?

A

Ivan Folling (1934) in Norway

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12
Q

Mentally retarded children’s urine:

A

Mousy odor

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13
Q

PKU is caused by failure to inherit gene to produce enzyme:

A

phenylalanine hydroxylase

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14
Q

Analysis of urine in PKU

A

Increase amount of keto acids (phenylpyruvate)

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15
Q

If the cut-off level for normal results is lowered from ______ to ______, the presence of PKU should be detected

A

4mg/dl; 2mg/dl

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16
Q

Phenylalanine can be detected as early as?

A

4 hours after birth

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17
Q

This is used in urine testing as follow-up test to ensure proper dietary control

A

Ferric Chloride

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18
Q

FERRIC CHLORIDE + URINE WITH
PHENYLPYRUVIC ACID =

A

permanent BLUE GREEN COLOR

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19
Q

Excess tyrosine in plasma

A

Tyrosinemia

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20
Q

Disorder of Tyrosine Metabolism can either be?

A

Inherited or Metabolic defects

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21
Q

Tyrosine degradation products:

A
  • p-hydroxyphenylpyruvic acid
  • p-hydroxyphenyllactic acid
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22
Q

Frequently seen in pre-mature infants and is caused by underdevelopment of liver function

A

Tyrosinemia

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23
Q

Produces tyrosyluria resembling transitory newborn screening variety & more serious conditions.

A

Acquired severe liver disease

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24
Q

Hereditary disorder in which enzymes required in metabolic pathway are not produced

A

Aminoaciduria

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25
Q

Hereditary disorders are classified into several types producing:

A
  1. Tyrosylemia
  2. Tyrosyluria
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26
Q

Caused by the enzyme fumarylacetoacetate hydrolase (FAH)

A

Type 1 Tyrosinemia

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27
Q

Produces a generalized renal tubular disorder and progressive liver failure in infants soon after birth.

Diagnosed by the detection of tyrosine and succinylacetone in the urine and blood.

A

Type 1 Tyrosinemia

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28
Q

Caused by the lack of the enzyme tyrosine aminotransferase.

People with this condition develop corneal erosions 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 tyrosinemia

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29
Q

This is used as a screening test for Tyrosinemia types 1, 2, and 3

A

MS/MS

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30
Q

Caused by lack of the enzyme
p-hydroxyphenylpyruvic acid dioxygenase.

A

Type 3 tyrosinemia

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31
Q

This can result in intellectual disability, seizures, and intermittent ataxia if dietary restrictions of phenylalanine and tyrosine are not implemented

A

Type 3 tyrosinemia

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32
Q

In Nitroso-Naphtol Test for tyrosine what color produced should be observed?

A

Orange-red **which indicate Tyrosine metabolite

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33
Q

Pigment responsible for the dark color of hair, skin, and eyes

A

Melanin

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34
Q

Deficient production of melanin

A

Albinism

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35
Q

Causes the darkening that appears after urine is exposed to air

A

Urinary melanin

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36
Q

This is a serious finding that indicates proliferation of the normal melanin-producing cells (melanocytes), producing a malignant melanoma

A

Elevated Urinary Melanin

37
Q

Produces 5,6,-hydorxyindole that will oxidize melanogen to melanin.

A

Malignant Myeloma

38
Q

One of the six original inborn errors of metabolism described by Garrod in 1902

A

Alkaptonuria

39
Q

Urine from patients with this condition darkened after becoming alkaline from standing at room temperature

A

Alkaptonuria

40
Q

3rd major aminoacidura

A

Alkaptonuria

41
Q

Used for Quantitating Homogentisic Acid.

A

Gas chromatography–mass spectrometry (GC-MS)

42
Q

Alkaptonuria results because of failure to inherit the gene to produce the enzyme

A

homogentisic acid oxidase

43
Q

Two Major Groups of Branched-Chain Amino Acid Disorders:

A
  1. Maple Syrup Urine Disease (MSUD)
  2. Organic Acidemia
44
Q

Accumulation of one or more of the early amino acid degradation products

A

Maple Syrup Urine Disease (MSUD)

45
Q

Accumulation of organic acids produced further down in the amino acid metabolic pathway

A

Organic Acidemia

46
Q

This differs from other amino acids by having METHYL
GROUP

A

Branched-Chain Amino Acid

47
Q

This is also included in newborn screening using MS/MS. Caused by IEM, inherited an autosomal recessive trait.

A

Maple Syrup Urine Disease (MSUD)

48
Q

Amino acids involved in Maple Syrup Urine Disease (MSUD)

A

LIV
1. Leucine
2. Isoleucine
3. Valine

49
Q

Reacts in several of the routinely used screening tests for metabolic disorders.

A

Homogentisic acid

50
Q

Homogentisic acid reacts to ferric chloride test by producing?

A

deep blue color

51
Q

Homogentisic acid reacts to Clinitest by producing?

A

Yellow precipitate indicates the presence of a reducing substance

52
Q

Another screening test for urinary homogentisic acid is to add ______to freshly voided urine and observed for darkening of the color.

However, large amounts of _________ interfere with this reaction

A

alkali; ascorbic acid

53
Q

Ketunoria in newborn

A

Branched-Chain Amino Acid Disorder

54
Q

Deficiency in decarboxylases and transaminases

A

Maple Syrup Urine Disease (MSUD)

55
Q

3 Common encountered acidemias:

A
  1. Isovaleric Acidemia
  2. Propionic Acidemia
  3. Methylmalonic Acidemia

detected by newborn screening program using MS/MS

56
Q

Possess a characteristic odor of sweaty feet. Caused by the accumulation of isovalerylglycine and eficiency in isovaleryl coenzyme

A

Isovaleric Acidemia

57
Q

Result from errors in the metabolic pathway converting isoleucine, valine, threonine, and
methionine to succinyl coenzyme A

A

Propionic and Methylmalonic Acidemia

58
Q

Immediate precursor to methylmalonic acid

A

Propionic acid

59
Q

increased amounts of tryptophan are converted to indole and then to indican then eventually excreted in urine

A

Indicanuria

60
Q

Seen in malabsorption, obstruction, and in** rare inherited disorder (Hartnup’s disease.)**

A

Indicanuria

61
Q

Caused by excessive production of SEROTONIN, which results to elevated urinary 5-HIAA

A

5-Hydroxyindoleacetic Acid

62
Q

Metabolism of tryptophan is the increase urinary excretion of metabolites:

A

Indicant and 5-Hydroxyindoleacetic Acid (5-HIAA)

63
Q

Normal daily excretion of 5-HIAA is

A

2-8 mg/ day.

64
Q

In 5-HIAA, increased production is seen in?

A

argentaffinoma (>25 mg/day)

65
Q

Defect in the renal transport of amino acid and is characterized by marked by elevated amounts of the amino acid cystine in the urine

A

Cystinuria

66
Q

Sulfur odor of urine sample

A

Cystinuria

67
Q

Regarded as a genuine Inborn Error of Metabolism

A

Cystinosis

68
Q

Presence of crystalline deposits of cystine crystals in different areas of the body (eyes, BM, lymph nodes)

Fanconi’s syndrome also occurs.

A

Cystinosis

69
Q

Due to the defect in methionine metabolism.

A

Homocystinuria

70
Q

Increased in this can result in failure to thrive, cataracts, mental retardation, thromboembolic problems, and death

A

homocystine

71
Q

intermediate compounds in the production of heme

A

Porphyrin

72
Q

A common disease of early royalty in Europe as a result of intermarriage among the royals of different countries.

A

Porphyria

73
Q

Disorders of porphyrin metabolism. Can be inherited or acquired from erythrocytic and
hepatic malfunctions or exposure to toxic agents.

A

Porphyria

74
Q

Skeletal structure is abnormal. There is severe mental retardation.

A

Hurler’s Syndrome

74
Q

Products most frequently found in the urine are dermatan sulfate, keratan sulfate, and heparan sulfate

A

Mucopolysaccharide

75
Q

Accumulation of mucopolysaccharide in the cornea of the eye

A

Hurler’s Syndrome

75
Q

Can cause mental retardation ONLY!

A

Sanfilippo’s Syndrome

75
Q

An inherited disorder that is characterized by massive excretion of urinary URIC ACID Crystals

A

Lesch-Nyhan Disease

76
Q

Deficiency in hypoxanthine-guanine phosphoribosyl transferase.

A

Lesch-Nyhan Disease

77
Q

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

A

Lesch-Nyhan Disease

78
Q

A general term pertaining to increased urinary sugar. Inherited in nature and does not cause any disturbance in the body’s metabolism.

A

Melituria

78
Q

The presence of galactose in urine is due to the inability of the body to metabolize galactose to glucose

A

Galactosuria

79
Q

Galactosuria can be caused by the deficiency in any of the three
enzymes:

A
  1. Galactose-1-phosphate uridyl transferase (GALT)
  2. Galactokinase
  3. UDP-galactose-4-epimerase
80
Q

Can cause the most severe and fatal symptoms associated with galactosuria

A

Galactose-1-phosphate uridyl transferase (GALT)

81
Q

Deficiency can cause cataract development in adulthood

A

Galactokinase

82
Q

May be asymptomatic or can produce mild melaturic
symptoms.

A

UDP-galactose-4-epimerase

83
Q

Other causes of Melituria

A

Lactosuria and Fructosuria

83
Q

Associated with parenteral feeding and pentosuria with ingestion of large amounts of fruit.

A

Fructosuria

84
Q

May be seen during pregnancy and lactation.

A

Lactosuria

MTAP1: AUBF (17 decks)

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