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CLS 304 > Metabolic Disorder > Flashcards

Metabolic Disorder Flashcards

1
Q

what kind of disorder is renal dysfunction

A

metabolic

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2
Q

what kind of disorder is overflow of metabolites

A

metabolic

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3
Q

what is the metabolic disorder of phenylketonuria

A

infantile tyrosinemia

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4
Q

what is the metabolic disorder of tyrosinemia

A

melanuria

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5
Q

what is the metabolic disorder of alkaptonuria

A

indicanuria

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6
Q

what is the metabolic disorder of maple syrup urine disease

A

5-hydroxyindoleacetic acid

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7
Q

what is the metabolic disorder of organic acidemias

A

porphyria

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8
Q

what is the renal disorder of phenylketonuria

A

hartnip disease

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9
Q

what is the renal disorder of tyrosinemia

A

cystinuria

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10
Q

what can pt’s not metabolize in lesch-nyhan disease

A

uric acid

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11
Q

true or false: phenyletoniruia is autosomal recessive

A

t

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12
Q

with phenyletoniruia what enzyme do they not produce

A

phenylalanine hydrozylase

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13
Q

pt with phenyletoniruia have increased ____ in blood and _____ ____ in urine

A

phenylalanine

ketoacid phenylpyruvate

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14
Q

what does urine smell like with phenyletoniruia

A

mousy odor

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15
Q

what does phenyletoniruia cause in children

A

mental retardation

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16
Q

how do they treat phenyletoniruia

A

diet is adjusted to reduce phenylalanine

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17
Q

what are these test ran for: Guthrie test pos in blood, phenistix and ferric chloride pos in UA, and tandem mass spec

A

phenyletoniruia

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18
Q

def? defective reabsorption of cytosine and dibasic a.a arginine, lysine and ornithine by RT cells

A

cystinuria

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19
Q

true or false: cystinuria is autosomal recessive

A

T

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20
Q

what develops with cystinuria

A

renal stones

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21
Q

what crystals are seen with cystinuria

A

cystine

22
Q

what test is ran for cystinuria

A

cyanide-nitroprusside test

23
Q

def? increased cystine in cornea, bone marrow, lymph nodes, and internal organs

A

cystinosis

24
Q

what develops with cystinosis

A

fanconi’s syndrome

25
Q

what crystals are colorless, refractive, and hexagons

A

cystine

26
Q

what ph are cystine crystals found

A

acidic

27
Q

in maple syrup disease what is not produced enough

A

branched chain keto acids

28
Q

true or false: maple syrup disease is autosomal recessive

A

t

29
Q

what disease has these symptoms severe neonatal vomiting, seizures, stupor, failure to thrive, mental retardation, and death

A

maple syrup disease

30
Q

what kind of precipitate is seen in maple syrup disease

A

yellow and white

31
Q

what enzyme is not produced in alkaptonuria

A

homogentisic acid oxidase

32
Q

what color are pt’s cartilage with alkaptonuria

A

dark blue brown to black

33
Q

what test are ran for alkaptonuria

A

gas chromatography and mass spec

34
Q

def? excess tyrosine in blood cause an overflow of tyrosine in urine

A

tyrosinuria

35
Q

metabolic cause of tyrosinuria

A

liver funtion

36
Q

inherited cause of tyrosinuria

A

impaired enzymes causes liver and renal problems

37
Q

what disease runs these test nitroso-napthol test and mass spec chromatography

A

tyrosinuria

38
Q

what crystals are seen in urine with tyrosinuria

A

tyrosine and leucine

39
Q

what crystals are fine silky needles arranged in sheaves or bundles

A

tyrosine

40
Q

what do tyrosine crystals get confused with

A

x ray dye

41
Q

what crystals are round to oval with radiating bands

A

leucine

42
Q

what are leucine crystals soluble in

A

hot all and alkali

43
Q

what precipitate is in urine with melanuria

A

ferric chloride

44
Q

what color urine is melanuria

A

red

45
Q

what color urine is tryptophan disorders

A

blue

46
Q

what enzyme is not produced with lesch nyhan disease

A

HART

47
Q

what crystals are produced with lesch nyhan disease

A

uric acid

48
Q

what kind of sediment lesch nyhan disease

A

orange sand like

49
Q

def? presence of increased urinary sugars

A

melituria

50
Q

in falactosuria what can not be metabolized to glucose

A

galactose

51
Q

what does urine look like with porphyrias

A

port red wine

52
Q

what disease is where vampires came from

A

porphytias

CLS 304 (21 decks)

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