- zymogens converted to active form in pancreas (instead of intestine)
Cystinuria - ANSWER-Nitrogen Metabolism
- defective basic AA transporter (CAOL)
- can't be reabsorbed by the kidney
- excreted in urine
- stones form
Hyperammonemia - ANSWER-Ammonia/Urea cycle
- neurotoxic to CNS
- coma, death
- CPS 1 defect
MSUD - ANSWER-AA metabolism
- BCKD deficiency
, - increased BCAAs
- reduce protein in diet (treatment)
PKU - ANSWER-AA metabolism
- Phenylalanine hydroxylase enzyme deficiency
- required to metabolize Phe/Tyr
- increased Phe in blood/tissue/urine
- low-Phe diet
- mental retardation
Albinism - ANSWER-AA Metabolism
- Tyrosine metabolism defect
- Melanin production deficiency
- absence of pigmentation
Jaundice - ANSWER-AA (Heme)
- yellow colour
- Bilirubin increase
- RBC destruction, liver dysfunction, bile defect
Gout - ANSWER-Nucleotide metabolism
- Hyperuricemia
- overproduciton of uric acid
- too many high Purine foods
- arthritis in one joint
Treat = Allopurinol (inhibit Xanthine oxidase)
Lipid Malabsorption - ANSWER-Digestion of Dietary Lipids
- steatorrhea (lipids in feces)
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