Home > Flashcards > Medical > Prot/NucAcid Metab. Disorders

Details Title: Prot/NucAcid Metab. Disorders Description: USMLE Step 1 prep Total Flash Cards: 10 Created: 06/08/2004 10:46:09	To study from this set of flash cards, or to create your own your own study flash cards, register HERE. If you are already a registered user, CLICK HERE.
Cards Term Phenylketonuria Definition deficiency of Phenylalanine Hydroxylase or Tetrahydrobiopterin cofactor -> decreased Tyrosine, Phenylalanine buildup -> excess Phenylketones (detected in urine) -> Mental Retardation, Eczema, Fair Skin; tx: avoid phenylalanine in diet, increase tyrosine intake Term Alkaptonuria Definition deficiency of Homogentisic Acid Oxidase -> failure of Tyrosine degredation pathway -> buildup of Alkapton bodies in urine and connective tissue (dark) -> Benign, sometimes arthralgias Term Homocystinuria Definition defective Cystathionine Synthase or Methionine Synthase -> excess Homocysteine in urine, excess Methionine in blood -> mental retardation, osteoporosis, Lens Dislocation! Term Cystinuria Definition defective Tubular AA transporter for "COLA" Cystine, Ornithine, Lysine, Arginine in kidneys -> precipition of Cystine in urine -> cystine kidney stones; tx: Acetazolamide (alkinlinizes the urine) Term Maple Syrup Urine disease Definition "I Love Vermont" maple syrup; blocked degradation of Branched AA's: Ile, Leu, Val -> severe CNS defects, Mental retardation, Death Term Adenosine Deaminase Deficiency Definition -> excess ATP and dATP -> imbalance of nucleotide pool -> feedback inhibition of Ribonucleotide Reductase -> prevention of nucleotide synthesis and thus DNA synthesis -> SCID in Kid's; tx: human gene therapy Term Lesch-Nyhan Syndrome Definition X-linked recessive; "LNS - Lacks Nucleotide Salvage": abscence of HGPRTase, which is a key Purine Salvage enzyme -> excess Uric Acid production -> Retardation, Self-mutilation, Aggression, Hyperuricemia/Gout Term Acute Intermittent Porphyria Definition deficiency of Uroporphyrinogen I Synthetase (involved in Heme synthesis) -> accumulation of d-Aminolevulinate (ALA) and Porphobilinogen in urine -> Abdominal pain, Neuropsychiatric prob's Term Lead Poisoning Definition inhibits Ferrochelatase and ALA Dehydrogenase -> ALA and Coproporphyrin III accumulation in urine, Anemia Term Porphyria Cutanea Tarda Definition deficient Uroporphyrinogen Decarboxylase -> Uroporphyrin seen in urine; most common Porphyria