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What is the treament of Cystinuria and what is a possible consequence of not treating
Acetazolide to alkinlize the urine cystine kidney stones due to excess cysteine
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What is the treatment of fructose intolerance?
decrease intake of both fructose and sucrose (glucose+ fructose)
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What is the treatment of Homocystinuria
1. For a defiency incystathionine synthase tx by decrease Met and increase Cys in diet 2. for decreased affinity of synthase Tx by decrease vitamin B6 in diet
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What is the Tx ofgalactosemia?
Exclude galactose and lactose(galactose +glucose) formdiet
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what offspring of females affected with a mitochondrial inherited disease will be effected?
all offspring can be effected
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what percent of offspring from two autosomal recessive carrier parents will be effected?
25%
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what percent of sons of a heterazygous mother carrying an x-linked disease will beeffected?
50%
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What period of life do autosomal dominant defects present in?
often present clinically after puberty
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What three phenyl ketones build up in the urine of PKU patients
phenylacetate, phenyllactate,phenylpyruvate
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What to thyroxine and Dopa have in common
both derived form tyrosine
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What type of genetic error is usually more severe autosomal recessive or dominant?
AR disorders are often more severe
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What type of inheritance is transmitted only through mothers?
mitochondrial
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When do patients usually present with autosomal recessive disorders?
present in childhood
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Why are RBC so susceptible to Glycolytic enzyme def.
RBC's metabolize glucose anaerobically (nomitochondria) and depends on glycolysis
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Why do people with fructose intolerance become hypoglycemic?
deficent aldolase B causes the accumulation of Fructose 1-phosphate which acts as a phosphate sink and traps thephosphate. Decreased phosphate availability inhibits glycogenolysis and gluconeogenesis
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X-linked recessive disease isaften more severe in
males
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1,3-BPG
2,3-BPG via bisphosphoglycerate mutase
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Acyl
coenzyme A, lipoamide
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Arachidonate
prostaglandins, -thromboxanes, -leukotrienes
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Associate the following signalmolecule precursors.
j
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At body pH, what AA arenegatively charged?
Arg and Lys His is neutral at pH 7.4
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At body pH, what AA are positvely charged?
Asp and Glu
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ATP
cAMP via adenylate cyclase
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By what rxn order kinetics does alcohol dehydrogenase operate?
zero order kinetics
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Choline
ACh via choline acetyltransferase
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Contrast glucagon andinsulin.
glucagon phosphorylates stuff, -turns glycogensynthase off and phosphorylase on
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Contrast hexokinase and glucokinase.
hexokinase throughout thebody, -GK in liver and haslower affinity but highercapacity for glucose
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Contrast hexokinase and glucokinase.
only HK is feedback inhibited by G6P
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Does insulin affect glucose uptake of brain, RBC's and liver?
No
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Does insulin inhibit glucagon release by alpha cells of pancreas?
YES
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electrons
NADH, NADPH, FADH(2)
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Fructose-6-phosphate
fructose-1,6-bis-P via PFK(rate limiting step ofglycolysis)
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glutamate
GABA via glutamatedecarboxylase (requires vit.B6)
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GTP
cGMP via guanylate cyclase
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How are ketone bodiesexcreted?
in urine
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How are ketone bodiesformed?
FA and AA converted to acetoacetate and b-hydroxybutyrate
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How do the statin drugs work?
they inhibit HMG-CoA reductase
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How does disulfiram work?
inhibits acetylaldehyde dehydrogenase
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How does FA enter the cytosol?
via citrate shuttle
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How does FA enter the mitochondria?
via the carnitine shuttle
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How does lead affect heme synthesis?
inhibits ALA dehydratase and ferrochelatase prevents incorporation of Fe
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How does the brain metabolize ketone bodies?
to 2 molecules of acetyl coA
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How is bilirubin removed from the body?
collected by liver, conjugated with glucuronate excreted in bile
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How is ethanol metabolized?
ethanol oxidized to acetylaldehyde by alcohol dehyd and NAD+acetalaldehyde ox to acetate by acetylaldehyde and NAD+
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How is FA entering the mitochondria inhibited?
by cytoplasmic malonyl-CoA
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