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24 Cards in this Set

  • Front
  • Back
albinism defect
tyrosinase
phenyketouria defect
phenylalanine hydroxylase

(tyrosine becomes an essential amino acid)

mental retard, musty odor
alkaptonuria defect
homogentisate oxidase

arthritis, urine darkens
maple syrup defect
branched chain decarboxylase

hyperrefelxia, sweet odor urine
homocystinuria
cystathionine synthetase

MR
lens dislocation
hartnup dz defect
neutral amino acid transporter

get pellagra from niacin deficiency!
in maple syrup disease, there is a buildup of what>
valine, isoleucine, leucine

(BCAA)
what phosphorylates glucose to glucose 6 phosphate in muscle? the liver?
hexokinase

glucokinase in liver (only substrate is glucose)
fructosuria defect
fructokinase

benign, asymptomatic
fructose intolerance defect
aldolase B

hypoglycemia, liver failur
galactosemia defect
uridyltransferase

cataracts, mental retardation
fructose intolerance results in an accumulation of what?
fructose-1-P which inhibits gluconeogenisis and glycogenolysis

(aldolase B defect)
what is von gierke disease?
lack of glucose 6 phosphatase (trapped in liver)

(fasting hypoglycemia, hepatomegaly, acidosis, failure to thrive)
what is pompe disease aka type II
alpha glucosidase defect in lysosomes...accumulation of glycogen in all organs

(muscle hypotonia, cardiac failure, death before age 2)
what is mcardle disease aka type 5
defect in skel muscle glycogen phosphorylase (myophosphorylase)..can't cleave alpha1-4 bond and release glucose-1-P

(progressive muscle weakness)
what are the primary bile acids (derived from cholesterol)?
cholic acid
chenodeoxycholic acid
what are the secondary bile acids?
deoxycholic acid
lithocholic acid

(produced from primary conjugated bile salts by intenstinal bacteria)
niemann-pick accumulate
sphingomyelin

liver and spleen enlarged, foamy cells
gaucher accumulate
glucocerebrosides

liver/spleen enlarged
osteoporosis
ashkenazi jews
krabbe accumulate
galactocerebrosides

blindness, deafness, convulsions
globoid cells
metachromatic leukodystrophy accumulate
sulfatides (arylsulfatase)

progressive paralysis
Fabry (X linked recessive) accumulate
globosides (alpha galactosidase)

reddish-purple skin rash
kidney and heart fail
angiokeratoma
tay-sachs accumulate
gangliosides(hexosaminidase)

blindess
cherry red macule
ashkenazi jews
lead poisoning results in what accumulate?
delta ALA protoporphyrin