Metabolic Disorder

Question 1

what kind of disorder is renal dysfunction

Answer 1

metabolic

Question 2

what kind of disorder is overflow of metabolites

Answer 2

metabolic

Question 3

what is the metabolic disorder of phenylketonuria

Answer 3

infantile tyrosinemia

Question 4

what is the metabolic disorder of tyrosinemia

Answer 4

melanuria

Question 5

what is the metabolic disorder of alkaptonuria

Answer 5

indicanuria

Question 6

what is the metabolic disorder of maple syrup urine disease

Answer 6

5-hydroxyindoleacetic acid

Question 7

what is the metabolic disorder of organic acidemias

Answer 7

porphyria

Question 8

what is the renal disorder of phenylketonuria

Answer 8

hartnip disease

Question 9

what is the renal disorder of tyrosinemia

Answer 9

cystinuria

Question 10

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

Answer 10

uric acid

Question 11

true or false: phenyletoniruia is autosomal recessive

Answer 11

t

Question 12

with phenyletoniruia what enzyme do they not produce

Answer 12

phenylalanine hydrozylase

Question 13

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

Answer 13

phenylalanine

ketoacid phenylpyruvate

Question 14

what does urine smell like with phenyletoniruia

Answer 14

mousy odor

Question 15

what does phenyletoniruia cause in children

Answer 15

mental retardation

Question 16

how do they treat phenyletoniruia

Answer 16

diet is adjusted to reduce phenylalanine

Question 17

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

Answer 17

phenyletoniruia

Question 18

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

Answer 18

cystinuria

Question 19

true or false: cystinuria is autosomal recessive

Answer 19

T

Question 20

what develops with cystinuria

Answer 20

renal stones

Question 21

what crystals are seen with cystinuria

Answer 21

cystine

Question 22

what test is ran for cystinuria

Answer 22

cyanide-nitroprusside test

Question 23

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

Answer 23

cystinosis

Question 24

what develops with cystinosis

Answer 24

fanconi’s syndrome

Question 25

what crystals are colorless, refractive, and hexagons

Answer 25

cystine

Question 26

what ph are cystine crystals found

Answer 26

acidic

Question 27

in maple syrup disease what is not produced enough

Answer 27

branched chain keto acids

Question 28

true or false: maple syrup disease is autosomal recessive

Answer 28

t

Question 29

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

Answer 29

maple syrup disease

Question 30

what kind of precipitate is seen in maple syrup disease

Answer 30

yellow and white

Question 31

what enzyme is not produced in alkaptonuria

Answer 31

homogentisic acid oxidase

Question 32

what color are pt's cartilage with alkaptonuria

Answer 32

dark blue brown to black

Question 33

what test are ran for alkaptonuria

Answer 33

gas chromatography and mass spec

Question 34

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

Answer 34

tyrosinuria

Question 35

metabolic cause of tyrosinuria

Answer 35

liver funtion

Question 36

inherited cause of tyrosinuria

Answer 36

impaired enzymes causes liver and renal problems

Question 37

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

Answer 37

tyrosinuria

Question 38

what crystals are seen in urine with tyrosinuria

Answer 38

tyrosine and leucine

Question 39

what crystals are fine silky needles arranged in sheaves or bundles

Answer 39

tyrosine

Question 40

what do tyrosine crystals get confused with

Answer 40

x ray dye

Question 41

what crystals are round to oval with radiating bands

Answer 41

leucine

Question 42

what are leucine crystals soluble in

Answer 42

hot all and alkali

Question 43

what precipitate is in urine with melanuria

Answer 43

ferric chloride

Question 44

what color urine is melanuria

Answer 44

red

Question 45

what color urine is tryptophan disorders

Answer 45

blue

Question 46

what enzyme is not produced with lesch nyhan disease

Answer 46

HART

Question 47

what crystals are produced with lesch nyhan disease

Answer 47

uric acid

Question 48

what kind of sediment lesch nyhan disease

Answer 48

orange sand like

Question 49

def? presence of increased urinary sugars

Answer 49

melituria

Question 50

in falactosuria what can not be metabolized to glucose

Answer 50

galactose

Question 51

what does urine look like with porphyrias

Answer 51

port red wine

Question 52

what disease is where vampires came from

Answer 52

porphytias