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DIT genetic2

QuestionAnswer
1000 fold risk of developing skin cancer xeroderma pigmentosum
alcoholics -> B1 def --> neurologic defects pyruvate dehydrogenase deficiency
abnormal collagen type 1 synthesis osteogenesis imperfecta
absence of HGPRTase lesch nyhan
deficiency of aldolase B fructose intoleranse
defective excision repair --> thymidine dimer formation xeroderma pigmentosa
deficiency of cystathionine synthase homocystinuria
heinz bodies G6PD
musty/mousy odor, albinism, MR, eczema PKU
galactose 1 P uridyl transferase deficiency --> MR, HSM, cataracts galactosemia
Rx = no nutrasweet, increased dietary tyrosine PKU
deficiency of tyrosinase albinism
hyperextensible skin, loose joints, bleeding tnedency ehler danlos
decreased NADPH due to lack of HMP enzyme G6PD deficiency
inherited defect in tubular AA transporter cystinuria
rx = decreased dietary methionine, increased cystine + B6 homocysteinuria
deficiency in homogentisic acid oxidase alkaptonuria
hypoglycemia + jaundice + cirrhosis fructose intolerance
self-mutilation, gout, agression, choreoathetosis lesch nyhan
blocked degradation of branced chain amino acids maple syrup urine disease
bloating, cramps, osmotic diarrhea lactose intolerance
Rx- acetazolamide to alkalinize urine cystinuria
deficiency results in a combined B and T cell deficiency SCID (ADA deficiency)
Rx = decreased fructose and sucrose intake fructosemia
Rx = increased intake of ketogenic nutrients (fats) pyruvate dehydrogenase def
dark brown urine, organs, and connective tissue; benign disease alkaptonuria
multiple fractures + blue sclera osteogenesis imperfecta
Rx = exclude galactose and lactose from diet galactosemia
Created by: kayjames
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