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urinalysis 1 > metabolic disorders > Flashcards

metabolic disorders Flashcards

1
Q

describe difference between cystinosis and cystinuria

-

A
  • cystinuria: renal disorder, inability to reabsorb cystine = excess cystine
  • cystinosis: overflow disorder, lysosomal membrane defect causing incomplete cytie metabolism = excess cystine in body that blocks reabsorption
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2
Q

true or false
IEM (inborn error of metabolism) is screened in newborn screening via tandem mass spec

A

true

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3
Q

list metabolic constituents/conditions detectable by urine color

A
  • homogentisic acid: black
  • melanin: black
  • indican: blue
  • porphyrins: port red
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4
Q

list abnormal metabolic constituents or conditions detected by odor

A
  • PKU: mousy
  • MSUD
  • Isovaleric academia: sweat eet
  • cystinuria: sulfur
  • cystinosis: sulfur
  • homocystinuria: sulfur
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5
Q

list phenylalanine-tyrosine disorders

A
  • phenylketonuria (PKU)
  • tyrosyluria
  • alkaptonuria
  • melanuria
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6
Q

list branched chain amino acid disorders

A
  • maple syrup urine disease (MSUD)
  • organic acidemias
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7
Q

list tryptophan disorders

A
  • indicanuria
  • 5-hydroxyindoleactic acid
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8
Q

list cystine disorders

A
  • cysinuria
  • cystinosis
  • homocystinuria
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9
Q

describe phenylketonuria

A
  • most common
  • mousy odor
  • increased keto acids
  • cannot convert to tyrosine
  • no melanin formation (tyrosine derivative)
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10
Q

how is phenylketonuria tested for

A
  • blood sample
  • tandem mass spec
  • ingestion of milk for 24 hours then test
  • bacterial inhibition = Guthrie
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11
Q

list urine screening tests for penylketonuria

A
  • done to monitor knwon PKU
  • ferric chloride test: permanent blue/green
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12
Q

describe tyrosyluria

A
  • excess tyrosine
  • inherited or metabolic
  • transitory most common (premature infant)
  • acquired = severe liver disease
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13
Q

list urine testing for tyrosuyluria

A
  • tyrosine and leucine crystals (liver disorder)
  • ferric chloride = green fading rapidly
  • nitroso-naphthol test = orange-red (non specific)
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14
Q

describe melanuria

A
  • increased urine melanin = dark/black
  • overproliferation of melanocytes releasing melanogen ox to melinin
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15
Q

UA screening tests for Melanuria

A
  • ferric chloride: gray or black precipitate
  • sodium nitroprusside: red
  • Ehrlich: red
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16
Q

describe alkaptonuria

A
  • urine becomes darker andr alkaline left standing
  • brown pigments deposited in body
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17
Q

list urinalysis tests for alkaptonuria

A
  • ferric chloride: blue
  • clinitest: yellow precipitate
  • alkalization: alkali to fresh = dark color
  • silver nitrate: added to fresh urine = black
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18
Q

list two major groups of defective metabolism of branched-chain amino acids

A
  • accumulation (early degradation products)
  • organic acidemias (further down)
19
Q

describe maple syrup urine disease

A
  • inborn error of metabolism
  • includes leucine, isoleucine and valine
  • inability to metabolize keto acids = accumulation
20
Q

list three amino acids involved in maple syurp urine disease

A
  • leucine
  • isoleucine
  • valine
21
Q

UA findings of MSU

A
  • maple syrup smell
  • ketone pos
22
Q

list symptoms of organic acidemias

A
  • metabolic acidosis
  • increased serum ammonia
  • can thrive but with problems
23
Q

lst common organic acidemias

A
  • isovaleric acidemia
  • propionic acidemia
  • methylmalonic acidemia
24
Q

true or false
there is no UA testing for organic acidemias

A

true
- only tandem mass spec

25
Q

describe tryptophan disorders - two increasing excretions

A
  • increased excretion of both indican and 5-HIAA
26
Q

describe indicanuria

A
  • abnormal intestinal reabsorption
  • tryptophan converted to indole then indican
  • blue urine on oxidization
27
Q

what is associated with hartnup disease

A

indicanurie
- inherited metabolic disease
- no reabsorption of tryptophan
- renal tubule abnormalities

28
Q

define cystinura

A

defect in renal tubular transport of amino acids
- renal disorder

29
Q

define cystinosis

A

inborn error of metabolism
- overflow disorder
- nonfunctional lysosomal membranes

30
Q

describe cystinuria

A
  • elevated cystine in urine
  • inabiility to reabsorb filtered cystine into blood
  • lysine, arginine and ornithine not reabsorbed
  • renal disorder
31
Q

list UA findings of cystinuria and testing

A
  • cystine crystals
  • cystine calculi (common in children)
  • cyanide nitroprusside test = purple
32
Q

describe cystinosis

A
  • overflow disorder
  • defect in the lysosomal membrane prevents cysteine from being metabolized in the cytoplasm
  • Crystal deposits in the body
  • crystals cover RTE cells and prevent reabsorption ==> acquired fanocni
33
Q

define homocystinuria

A

metabolic defect of methionine producing increased homocysteine

34
Q

UA tests for homocystinuria

A
  • screening: red cyanide nitroprusside (pos)
  • confirmatory: red silver nitroprusside (pos)
35
Q

list 3 main types of porphyrin

A
  • uroporphyin
  • coproporphyrin
  • protoporphyrin
36
Q

list two main precursors of interest in porphyrinuria

A

ALA and porphobilinogen

37
Q

distinguishing characteristics of porphyrias

A

port wine red urine
fluorescence (purple, pink or red)

38
Q

define glycoaminoglycans

A

located in connective tissue
- inherited disorder = prevents the breakdown of polysaccharide branches

39
Q

list type of mucopolysaccharidoses

A
  • hurlers - connective tissue in the face
  • hunters
  • sanfilippo’s - most common
40
Q

list testing for mucopolysaccharidoses

A
  • CTAB
  • acid-albumin
  • metachromatic staining spt test
41
Q

describe Lesch-Nyhan

A
  • purine metabolism disorder
  • uric acid crystals
  • orange diaper sand
  • goat
42
Q

define melituria

A

presence of increased urinary sugar (any sugar)

43
Q

describe galactosuria

A

inability to metabolize galactose to glucose
- glucose negative, build up of galactose
- galactosemia

urinalysis 1 (13 decks)

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