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Step 1 9.10.12

Enzyme deficiencies and Amino Acids

QuestionAnswer
What is the mechanism of glucose 6 phosphate DH deficiency? NADPH is needed to keep glutathione reduced which prevents damage from free radiacal and peroxides esp in RBCs.
What is the inheritance of G6PDH deficency and who gets it? XLR, common among blacks as increases malaria defense
What are the findings of G6PDH deficency? hemolytic anemia. Heinz bodies of oxidized Hb, bite cells from phagocytic removal of Heinz bodies in spleen
what is the mechanism of essential frucosuria? deficency of fructokinase, benign and asx. AR inheritance. fructose in urine
what is the mechanism of fructose intolerance, what accumulates and what is inhbited? deficency of aldolase B, AR. F1P acumulates which reduces phoshpate and inhibits glycogenolysis and gluconeogenesis
What are the Sx of fructose intolerance? hypoglycemia, jaundice, cirrhosis, vomiting
What is the treatment for fructose intolerance? decrease intake of fructose and sucrose (glucose and fructose)
What is the inheritance, mech of galactokinase deficency? deficincy of galactokinase, galactiol accumulates. mild. AR
What are the Sx of galactokinase deficincy and how is it detected esp in children? glactose appears in blood and urine. infantile cataracts. may present as failure to track objects or smile
What is the mechanism of classic galactosemia,inheritance, and what accumulates? absense of glactose-1-phosphate uridyltransferase. AR. accumulation of galacitol and others esp in eye.
What are the Sx of classic galactosemia? failure to thrive, jaundice, heptomegaly, infantile cataracts, retardation
What is the treatment for classic galactosemia? exclude glactose and lactose from diet
What is a mnemonic for the more sever fructose and galactose deficency? Fructose is to aldolase B as glactose is to urityldyltransferase (FAB GUT)
What is the significance of sorbitol and aldose reductase esp in DM? sorbitol is a means of trapping glucose in a cell via aldose reductase. then to fructose via sorbitol DH. W/o enzyme get accumulation which causes cataracts adn retinopathy in DM
What is the mech and sx of lactase deficiency? age dependent of hereditary intolerance due to loss of brush border enzyme. get bloating, cramps, osmotic diarrhea
How is lactase deficiency tx? avoid dairy, add lactase pills
What form of AA are found in cells? only L type
What are the 10 essential amino acids? glucogenic:Met, Val, Arg, His. glucogenic/ketogenic:Ile,Phe,Thr,Trp Ketogenic:leu, lys
What are the acidic AA? Asp, Glu
What are the basic AA and which is most? Arg, Lys, His. Arg is most basic, his has no charge at body pH
What 2 AA are required in times of growth and what AA are increased in histones? Arg, His needed for growth. Arg Lys increased in histones to bind neg DNA
What is the mnemonic for the urea cycle? Ordinarily Careless Crappers Are Also Frivolous About Urination ( ornithine,carbomyl phosphate, citruline, aspartate, arginosuccinate, fumarate, arginine urea---->ornithine
What 2 things transport the NH3 group for AA to urea? alanine and glutamate
What are the sx of ammonia intox? tremor, slurring, somnolence, vomiting, cerebral edema, blurred vision
What is the mech of hyperammonemia? excess Nh4+ depletes alpha ketoglutarate leading to TCA cycle inhibiton
How is hyperammonemia treated? limit protein. benzoate adn phenylbutyrate can be given, lactulose to acidify GI to trap NH4+ for excretion
What is the mech and inheritance or ornithine transcarbomoylase deficiency? XLR vs other urea cycle ones which are AR. interferes with bodys ability to eliminate ammonia. excess is converted to orotic acid which is part of pyrimidine synth
What are the findings of ornithine transcarbomoylase deficiency? orotic acid in blood and urine, decreased BUN, Sc of hyperammonemia
How does the body make thyroxine? phenylalanine via tyrosine
How does the body make melanin? phenylalanine via tyrosine then DOPA
how does the body make NAD/NADP? tryptophan via B6 and niacin
How does the body make melatonin? via tryptophan, BH4, then serotoning
How does the body make histamine? histidine via B6
how does the body make heme? via glycine and B6 by way of prophrin
What AA do creatine, urea and nitric oxide come from? ARGININe
How is GABA made? glutamate via B6
How is glutathione made? via glutamate
Created by: tjs2123
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