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Lead Poisoning Old test problems • 96-F, #13 • 95-F, #7 • 94-F, #49 1o problem: Blockage of enzymes in Heme Synthesis • ALA Dehydrase • Ferrochetalase ALA Dehydrase What functional group d-ALA does Pb bind to? porphobilinogen Pb Ferrochetalase Protoporphyrin IX • Heme • RBCs • Coproporphyrin III • d-ALA • Treatment: EDTA-Ca++ Heme What ion is placed on protoporphyrin IX in Pb poisoning? Old test problems • 96-F, #46 • 95-F, #45 • 95-F, #46 Phenylketonuria 1o problem: Phenylalanine hydroxylase deficency Phenylalanine hydroxylase These steps are not normally used except when Phe builds up Tyrosine Phenylalanine Phenyllactate Phenylacetate Phenylpyruvate Adrenaline Thyroxine • Phenylalanine, phenyllactate, phenylacetate, phenylpyruvate • Tyrosine, Adrenalin, Thyroxine, Melanin • Retardation, failure to grow, microcephaly • Pigmentation (melanin) • Tyrosine becomes an essential amino acid • Low Phe diet, but not a Phe deficient diet Melanin Diabetic Ketoacidosis Old test problems • 96-F, #36 • 95-F, #6 Build up of ketone bodies in type I diabetics (insulin deficient) Blood Insulin Sk. Muscle/ • Without insulin, SKM/AD cannot uptake Glc adipose Insulin R. • SKM/AD respond as if the body is starving + Glc GLUT4 Glc • HCO3• pH • Blood glucose • Ketone bodies • Urea (Why?) • Insulin • Glucagon/Glucocorticoids • b-oxidation • Gluconeogenesis • Gluconeogenesis and lipolysis are triggered • GNG exacerbates the high Glc • Lipolysis leads to an increase in ketone body formation Old test problems • 96-F, #52 Homocystinuria 1o deficiency: Cystathionine synthetase Cystathionine Serine synthetase Homocysteine Cystathionine Proprionyl CoA Cystine S-adenosylhomocysteine S-adenosylmethionine Methionine • Methionine, S-AdMethionine, S-AdHomocystine, Homocystine • Cystine • Mental retardation • Dislocation of the lens Old test problems • 96-F, #20 Hyperammonemia 1o deficiency: urea cycle enzymes or liver damage Mitochondria NH4 + CO2 Carbamoyl Phosphate What other pathway uses this compound? Citrulline Cytosol Citrulline Deficiency at any step can cause hyperammonemia Ornithine • NH4+ • Glutamine • Pyrymidine biosynthesis • Transaminase levels • Hepatomegaly • CNS problems (listlessness, poor vision, screaming) • Coma Aspartate Ornithine Argininosuccinate Fumarate Arginine UREA • Can be acquired by alcoholism, hepatitis, bile duct obstruction • Can be inherited: deficiencies in five urea cycle enzymes have been noted Old test problems • 96-F, #34 • 95-F, #8 • 94-F, 41 Orotic Aciduria 1o deficiency: Enzymes in pyrimidine biosynthesis Orotate phosphoribosyl transferase Orotate (orotidylic acid) • Orotate (forms crystals in urine) • UMP, pyrimidines • Hemoglobin • RBCs • Treatment: uridine supplements OMP decarboxylase OMP UMP CO2 O O N N O N COOH O N What are these structures? Old test problems • 96-F, #14 • 95-F, #5 • 94-F, #37 Insulinoma 1o problem: Benign tumor of pancreatic islet cells. Insulin release from tumor is not regulated (haphazard) B SH SH SH SH B C A Pre-Proinsulin S S B S S S S C A A Proinsulin Note: Not exactly how peptides line up, see Figure 69 of the paper S S C Insulin Peptide C • Glucose tolerance test shows mild diabetes • Blood sugar in fasting state (rises or falls?) • Blood sugar after a meal (rises or falls?) • NORMAL- Endogenous insulin levels should reduce when treated with exogenous insulin. (insulin challenge test) • INSULINOMA- Endogenous insulin levels (measured by peptide C levels) do not fall after exogenous insulin is added.
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