12 terms

Biochemistry Exam 3 - Clinical Relevance

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Kwashiorkor
results from low protein diet, which increases plasma proteins and causes edema
Cystic fibrosis
defect in chloride channels in pancreatic ducts leading to eventual obstruction; results in decrease in pancreatic enzymes in intestinal lumen to digest proteins
Cystinuria
Defect in cysteine and basic amino acid transport in intestine (COAL...cys, ornithine, arg, lys) ; leads to kidney stone formation in ureter
Szhizophrenia/Bipolar disorder
altered transport of Tyr and Trp, which results in changes in dopamine and serotonin, respectively
Hartnup Disease
Defect in neutral AA transport in GI and kidney
Maple Syrup Urine Disease
alpha-ketoacid dehydrogenase for branched amino acids; short lifespan
Alkaptonuria
non-fatal, black urine; homogentistic acid oxidase
Phenylketouria
phenylalanine hydroxylase; build up of Phe
Albinism
Tyrosinase; Tyrosine ---> melanin
Lesch-nyhan syndrome
deficiency in HGPRT; increased PRPP, decrease IMP/GMP so increased purine synthesis...increased uric acid
Gout
excess uric acid; deposits are called tophi; can be caused by a deficiency in HGPRT or G6Pase; treatment = allopurinol
Severe Combined immunodeficiency
adenosine deaminase deficiency; fatal, no T cell or B cell immunity; Treatment = bone marrow transplant