Metabolism disorders Flashcards
1000X increase of developing skin CA
xeroderma pigmentosa
alcoholics leading to B1 deficiency leading to neurologic defects
pyruvate dehydrogenase deficiency
abnormal collagen type I synthesis
osteogenesis imperfecta
absence of HGPRTase
Lesch-Nyhan syndrome
deficiency of aldolase B
fructose intolerance
defective excision repair leading to thymidine dimer formation
xeroderma pigmentosa
deficiency of cystathionine synthase
homocysteinuria
Heinz bodies
G6PD deficiency
musty/mousy odor, albinism, MR, eczema
PKU
galactose-1P uridyltransferase deficiency, leading to mental retardation, hepatosplenomegaly, cataracts
galactosemia
Rx: no Nutrasweet, increased dietary tyrosine
PKU
deficiency of tyrosinase
albinism
hyperextensible skin, loose joints, bleeding tendency
Ehler’s Danlos
Decreased NADPH due to lack of HMP enzyme
G6PD deficiency
inherited defect in tubular amino acid transporter
cysteinuria
Treat with decreased dietary methionine, increased cystine and B6
homocysteinuria
deficiency in homogentisic acid oxidase
alkaptonuria
hypoglycemia and jaundice and cirrhosis
fructose intolerance
self-mutilation, gout, aggression, choreoathetosis
Lesch-Nyhan syndrome
Blocked degradation of branched chain amino acids
Maple Syrup Urine Disease
Bloating, cramps, osmotic diarrhea
Lactose intolerance
Treat with acetazolamide to alkalinize urine
cysteinuria
deficiency results in a combined B and T cell deficiency
adenosine deaminase deficiency
treat with decreased fructose and sucrose intake
fructose intolerance
treat with increased intake of ketogenic nutrients (fats)
pyruvate dehydrogenase deficiency
dark brown urine, organs, and connective tissue; benign
alkaptonuria
multiple fractures and blue sclera
osteogenesis imperfecta
treat by excludin galactose and lactose from diet
galactosemia
