Term
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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 |
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Term
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Definition
| deficiency of Homogentisic Acid Oxidase -> failure of Tyrosine degredation pathway -> buildup of Alkapton bodies in urine and connective tissue (dark) -> Benign, sometimes arthralgias |
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Term
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Definition
| defective Cystathionine Synthase or Methionine Synthase -> excess Homocysteine in urine, excess Methionine in blood -> mental retardation, osteoporosis, Lens Dislocation! |
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Term
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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) |
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Term
| Maple Syrup Urine disease |
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Definition
| "I Love Vermont" maple syrup; blocked degradation of Branched AA's: Ile, Leu, Val -> severe CNS defects, Mental retardation, Death |
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Term
| Adenosine Deaminase Deficiency |
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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 |
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Term
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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 |
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Term
| Acute Intermittent Porphyria |
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Definition
| deficiency of Uroporphyrinogen I Synthetase (involved in Heme synthesis) -> accumulation of d-Aminolevulinate (ALA) and Porphobilinogen in urine -> Abdominal pain, Neuropsychiatric prob's |
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Term
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Definition
| inhibits Ferrochelatase and ALA Dehydrogenase -> ALA and Coproporphyrin III accumulation in urine, Anemia |
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Term
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Definition
| deficient Uroporphyrinogen Decarboxylase -> Uroporphyrin seen in urine; most common Porphyria |
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