Card Set Information
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
What is the treatment of fructose intolerance?
decrease intake of both fructose and sucrose (glucose+ fructose)
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
What is the Tx ofgalactosemia?
Exclude galactose and lactose(galactose +glucose) formdiet
what offspring of females affected with a mitochondrial inherited disease will be effected?
all offspring can be effected
what percent of offspring from two autosomal recessive carrier parents will be effected?
what percent of sons of a heterazygous mother carrying an x-linked disease will beeffected?
What period of life do autosomal dominant defects present in?
often present clinically after puberty
What three phenyl ketones build up in the urine of PKU patients
What to thyroxine and Dopa have in common
both derived form tyrosine
What type of genetic error is usually more severe autosomal recessive or dominant?
AR disorders are often more severe
What type of inheritance is transmitted only through mothers?
When do patients usually present with autosomal recessive disorders?
present in childhood
Why are RBC so susceptible to Glycolytic enzyme def.
RBC's metabolize glucose anaerobically (nomitochondria) and depends on glycolysis
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
X-linked recessive disease isaften more severe in
2,3-BPG via bisphosphoglycerate mutase
coenzyme A, lipoamide
prostaglandins, -thromboxanes, -leukotrienes
Associate the following signalmolecule precursors.
At body pH, what AA arenegatively charged?
Arg and Lys His is neutral at pH 7.4
At body pH, what AA are positvely charged?
Asp and Glu
cAMP via adenylate cyclase
By what rxn order kinetics does alcohol dehydrogenase operate?
zero order kinetics
ACh via choline acetyltransferase
Contrast glucagon andinsulin.
glucagon phosphorylates stuff, -turns glycogensynthase off and phosphorylase on
Contrast hexokinase and glucokinase.
hexokinase throughout thebody, -GK in liver and haslower affinity but highercapacity for glucose
Contrast hexokinase and glucokinase.
only HK is feedback inhibited by G6P
Does insulin affect glucose uptake of brain, RBC's and liver?
Does insulin inhibit glucagon release by alpha cells of pancreas?
NADH, NADPH, FADH(2)
fructose-1,6-bis-P via PFK(rate limiting step ofglycolysis)
GABA via glutamatedecarboxylase (requires vit.B6)
cGMP via guanylate cyclase
How are ketone bodiesexcreted?
How are ketone bodiesformed?
FA and AA converted to acetoacetate and b-hydroxybutyrate
How do the statin drugs work?
they inhibit HMG-CoA reductase
How does disulfiram work?
inhibits acetylaldehyde dehydrogenase
How does FA enter the cytosol?
via citrate shuttle
How does FA enter the mitochondria?
via the carnitine shuttle
How does lead affect heme synthesis?
inhibits ALA dehydratase and ferrochelatase prevents incorporation of Fe
How does the brain metabolize ketone bodies?
to 2 molecules of acetyl coA
How is bilirubin removed from the body?
collected by liver, conjugated with glucuronate excreted in bile
How is ethanol metabolized?
ethanol oxidized to acetylaldehyde by alcohol dehyd and NAD+acetalaldehyde ox to acetate by acetylaldehyde and NAD+
How is FA entering the mitochondria inhibited?
by cytoplasmic malonyl-CoA