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aubf finals > urine screening (metabolic disorders) > Flashcards

urine screening (metabolic disorders) Flashcards

1
Q
  • Tryptophan produces serotonin
  • Serotonin from tryptophane is produced by the intestinal argentaffin cells and is carried in the body to the muscles by platelets
  • Excess excreted in the urine as (?)
  • Argentaffin cell tumors = ↑ ↑ (?) in urine from excess serotonin produced
  • Nitrous acid and 1-nitroso-2-naphthol produce purple to black color
  • Normal: 2-8 mg/day, >25 mg/day in disease
  • Can perform test on random specimens
  • No bananas, pineapples, tomatoes, phenothiazines, and acetanilids for 72 hours
  • 24-hour urines must be preserved with HCl or boric acid
A

5-HIAA

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2
Q

homogentistic acid test

  • Addition of silver nitrate and ammonium hydroxide to urine
  • black urine
A

Ammoniacal Silver Nitrate Test

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3
Q
  • skeletal structure is abnormal and there is severe mental retardation
  • Bone marrow transplants and gene replacement therapy
  • acid-albumin (turbidity after 30 mins)
  • cetyltrimethylammonium bromide (CTAB) turbidity tests (turbidity after 5 mins)
  • Metachromatic staining (blue spot)
A

hunter syndrome

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4
Q
  • p-hydroxyphenylpyruvic acid dioxygenase
  • result in mental retardation if dietary restrictions of phenylalanine and tyrosine are not implemented
A

type 3 tyrosinemia

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5
Q

one of Garrod’s original six IEMs

A

pentosuria

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6
Q
  • port wine color after air exposure, also seen on
    diapers
    §Ehrlich reaction: only for ALA and porphobilinogen
  • Convert ALA to porphobilinogen by adding acetyl acetone
  • Fluorescence under ultraviolet light used for other porphyrins; extract into glacial acetic acid and ethyl acetate; does not distinguish
  • Violet, pink, red, based on concentration
A

porphyrin disorders

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7
Q
  • Enzyme deficiency is homogentisic acid oxidase
  • Black alkaline urine, possible black-stained diapers
  • Manifests later in life with brown pigment deposits in tissues
  • blue with ferric chloride
  • yellow precipitate with clinitest
  • black with silver nitrate and ammonium hydroxide
A

alkaptonuria

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8
Q
  • tyrosine aminotransferase
  • 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 tyrosinemia

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9
Q
  • Current state-mandated screening for as many as 29 inborn errors of metabolism
  • Urine tests are primarily for follow-up
  • Disorders can cause abnormal urinalysis results
  • Heel stick blood tests are used for testing
  • Performed before infant leaves hospital
  • Metabolites appear first in the blood
  • Analyze by tandem mass spectrophotometry, MS/MS
  • Gene testing is being worked on
A

newborn screening

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10
Q

melanuria

  • oxidation of chromogen
  • gray or black ppt
A

ferric chloride tube test

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11
Q
  • Fumarylacetoacetate hydrolase (FAH)
  • Produces a generalized renal tubular disorder and progressive liver failure in infants soon after birth
A

type 1 tyrosenemia

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12
Q
  • Breakdown in a normal metabolic pathway causing accumulation of previous metabolite
  • Overrides Tm or is not normally reabsorbed
  • Inherited lack of specific enzyme for protein,fat, or carbohydrate metabolism–Inborn Error of Metabolism
A

overflow

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13
Q
  • Differentiation of urobilinogen, porphobilinogen and other Ehrlich-Reactive Compounds.
  • Extraction with CHLOROFORM and BUTANOL
A

watson-schwartz test

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14
Q
  • 1 in 10,000 births
  • Autosomal-recessive; heterozygotes normal
  • Damage to child’s mental capacity
  • Alternate pathways as child matures
  • Avoid ↑ phenylalanine foods (aspartame)
  • Urine and 5% ferric chloride produces a permanent green-blue color
A

phenylketonuria

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15
Q
  • immediate precursor to methylmalonic acid
  • errors in the metabolic pathway converting isoleucine, valine, threonine, and methionine to succinyl coenzyme A
A

propionic acidemia

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16
Q
  • crystalline deposits of cystine in many areas of the body
  • defect in the lysosomal membranes
  • Positive test results for reducing substances
A

cystinosis

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17
Q

amino acid disorders (aminoacidurias)

A
  • Phenylketonuria,
  • tyrosyluria,
  • alkaptonuria
18
Q
  • Inborn error of metabolism, autosomal-recessive
  • 1-week failure to thrive is noticed
  • Urine: strong odor of maple syrup, and thick, dark appearance
  • Dietary regulation
  • Screening test 2,4-dinitrophenylhydrazine produces yellow precipitate turbidity
  • Positive urine ketones
A

MSUD

19
Q

melanuria

  • Screening test
  • red color
A

sodium nitroprusside test

20
Q
  • increase in homocystine throughout the body
  • Defect in methionine metabolism
  • (+) cyanide-nitroprusside test plus (+) silver nitroprusside test
A

homocystinuria

21
Q
  • parenteral feeding
  • ingestion of large amounts of fruit
A

fructosuria

22
Q

Cyanide-Nitroprusside Test

False-positives:
(?), (?)

A
  • ketonuria
  • homocystinuria
23
Q

melanuria

  • Interference à add glacial acetic acid (reverts color greenish-black)
  • Acetone
  • Creatinine
  • purple
  • amber
A

sodium nitroprusside test

24
Q

DNPH test interference

  • Large doses of (?)
  • a positive reagent strip test result for (?) produce a positive DNPH result
A
  • ampicillin
  • ketones
25
Q
  • deficiency in any of three enzymes, galactose-1-phosphate uridyl transferase (GALT), galactokinase and UDP-galactose-4-epimerase
  • inability to properly metabolize galactose to glucose
A

galactosuria

26
Q

Media containing beta-2-thienylalaline, an inhibitor of Bacillus subtilis, is streaked with the bacteria; blood impregnated discs placed on the agar; phenylalanine counteracts the inhibitor, and bacteria grow around the disc

A

guthrie blood test

27
Q
  • Failure to inherit the gene to produce the enzyme hypoxanthine guanine phosphoribosyl-transferase
  • severe motor defects
  • mental retardation
  • tendency toward self destruction
  • Gout
  • renal calculi
  • Presence of uric acid crystals resembling orange sand in diapers
  • Microscopic–presence of increased uric acid crystals in pediatric urine specimens
A

lesch-nyhan disease

28
Q
  • Mental retardation
  • Bone marrow transplants and gene replacement therapy
  • acid-albumin (turbidity after 30 mins)
  • cetyltrimethylammonium bromide (CTAB) turbidity tests (turbidity after 5 mins)
  • Metachromatic staining (blue spot)
A

sanfillippo syndrome

29
Q
  • skeletal structure is abnormal and there is severe mental retardation
  • mucopolysaccharides accumulate in the cornea of the eye.
  • Bone marrow transplants and gene replacement therapy
  • acid-albumin (turbidity after 30 mins)
  • cetyltrimethylammonium bromide (CTAB) turbidity tests (turbidity after 5 mins)
  • Metachromatic staining (blue spot)
A

hurler syndrome

30
Q

accumulation of organic acids further down in pathway

A

organic acedemias

31
Q
  • errors in the metabolic pathway converting isoleucine, valine, threonine, and methionine to succinyl coenzyme A
  • p-nitroaniline urine Test (emerald green)
A

methylmalonic acidemia

32
Q
  • have noticeable odor of sulfur
  • Inherited disorder affecting renal reabsorption
  • Two modes of inheritance:
    1. only cystine and lysine are not reabsorbed
    2. cystine, lysine, arginine, and ornithine are not reabsorbed
  • Increased calculi formation early in life for both modes
  • More common in 4 amino acids inheritance
  • elevated amino acid cystine in urine (+) cystine crystals in urine
  • inability of the renal tubules to reabsorb cystine filtered by the glomerulus
  • Cyanide-nitroprusside Test (red-purple color)
A

cystinuria

33
Q

early degradation products accumulate

A

maple syrup urinde disease (MSUD)

34
Q
  • Sweaty feet odor of urine
  • Accumulation of isovalerylglycine
  • isovaleryl coenzyme A deficiency in the leucine pathway
  • MS/MS
A

isovaleric acidemia

35
Q

seen during pregnancy and lactation

A

lactosuria

36
Q

homogentistic acid test

  • Screening test for metabolic disorder
  • transient deep blue color in test tube
A

FeCl3 test

37
Q

homogentistic acid test

  • test for reducing substance
  • yellow precipitate
A

clinitest

38
Q
  • Metabolic defects
  • Underdevelopment of liver function
  • Acquired severe liver disease
  • Ferric chloride produces a transient green color—do not confuse with phenylalanine
  • Nitroso-naphthol produces an orange-red color
A

tyrosyluria/tyrosinemia

39
Q
  • Second pathway for tyrosine
  • Pigment for dark hair, skin
  • Defect causes albinism
  • Increased production = malignant melanoma
  • Dark urine from oxidation of melanogen
  • Black precipitate with ferric chloride
  • Red color with sodium nitroprusside
A

melanuria

40
Q
  • Tryptophan enters intestine; is reabsorbed or is converted to indole by bacteria and leaves in the feces
  • Intestinal disorders and Hartnup disease cause increased tryptophane conversion to indole
  • Hartnup disease: blue diaper syndrome
  • Inherited disorder affects intestinal reabsorption of indole and renal tubular reabsorption = Fanconi syndrome
  • Requires dietary supplements
  • Urine: blue or violet color with ferric chloride that can be extracted into chloroform
  • Increased indole reabsorbed, excreted by kidney on its way to the liver
  • Exposure of urine to air = indigo blue
A

indicanuria

41
Q

homogentistic acid test

  • Screening test
  • add alkali to freshly voided urine
  • observe for darkening of the color (ascorbic acid interferes the test)
A

Urinary Homogentisic Acid Test

aubf finals (2 decks)

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