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Diseases Exam 3
Biochem diseases
| Question | Answer |
|---|---|
| A defect in Carbamoyl phosphate synthetase I is known as: | Type I Congenital hyperammonemia |
| A defect in Ornithine transcarbamoylase is known as: | Type II Congenital hyperammonemia |
| A defect in Argininosuccinate Synthetase is known as: | Cirtullnemia |
| A defect in Argininosuccinate lyase is known as: | Argininosuccinate aciduria |
| A defect in Arginase is known as: | Argenemia |
| A defect in Citrin would lead to: | Decreased Asp in cytoplasm |
| ORNT1 deficency is similar to: | OCT deficency |
| How is Arginosuccinase deficency treated? | Increased Arg diet, restrict protein intake, Argininosuccinate excreted as Nitrogen carrier |
| A defect in branched chain alpha-keto acid dehydrogenase is known as: | Maple syrup Urine disease |
| An accumulation of branched chain-keto acids: Leucine, Ile, Val and their degradation products is a sign of: | MSUD (Maple syrup urine disease) |
| A defect in cystathionine synthase is known as: | Homocystinuria |
| A defect in phenylalanine hydroxalase is known as: | PKU I |
| What is an essential AA for PKU patients? | Tyrosine |
| What drug is used to treat PKU I? | Kuvan and Palynziq |
| A defect in dihydropteridine reductase is known as: | PKU II |
| A defect in tyrosinase is known as: | Albinism |
| A defect in dihydropteridine reductase leads to: | Elevated Phe, decreased catecholamines, serotonin |
| A defect in homogentistate oxidase is known as: | Alkaptonuria (black urine) |
| A defect in fumarylacetoacetate hydrolase is known as: | Type I tyrosinemia |
| Accumulation of fumarylacetoacetate in liver and proximal renal tubular is a sign of: | Type I Tyrosinemia |
| What molecule is important for carboxylation rxns? | Biotin |
| A defect in PRPP synthetase is known as: | Arts syndrome |
| What are the characteristics of Arts syndrome: | Mental retardation, delayed motor development, ocular atrophy. Lack of purine synthesis, no hypoxanthine, reduced úrico acid |
| A deficency in HGPRT is known as: | Leach-Nyhan syndrome |
| A defect in APRT is: | Autosomal recessive; can’t salvage adenine bases; Rena colic and acute renal failure |
| Decreased T cells and lymphocytopenia w/ normal B cells; decreased úric acid formation and increased purine nucleosides and nucleotides is known as: | Purine nucleoside Phosphorylase deficiency |
| PNP can be treated with | BMT |
| PNP is known for the accumulation of: | dGTP which leads to increased dATP, inhibiting RNR. DGTP also inhibits UDP ->CDP |
| Developmental delay, seizures, ataxia, severe language deficit and hyperactivity is known as: | Increased nucleotidase activity |
| Increased nucleotidase activity is treated by: | Uridine |
| Severe combined immunodeficiency involving both T/B cell dysfunction and large buildups of dATP is a sign of: | Adenosine Deaminase def (ADA) - autosomal recessive |
| What is the treatment of ADA | Bone Marrow transplant |
| A deficiency in Xanthine Oxidase is known as: | Xanthinuria |
| The treatment for Xanthinuria is: | High fluid intake and no purines |
| Formation of sodium rate crystals in the joint is characteristic of: | Gout |
| A disease caused by increased uric acid formation die to chemotherapy that is treated with Rasburicase is known as: | Tumor lysis syndrome |
| A defect in UMP synthase is known as: | Hereditary Orotic Aciduria |
| The treatment for Hereditary Orotic Aciiduria is | Uridine |
| Megaloblastic bone marrow not fixed by vitamins is characteristic of | HOA |
| A defect in cytosolic thymidine phosphorylase is known as: | Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE) |
| Issues with eye muscles, GI problems, chachexia and peripheral neuropathy is characteristic of: | MNGIE |
| Decreased thymidine phosphorylase activity leads to: | Increased dThymidine and dUridine |
| Succinyl acetone is seen in patients with: | Hereditary tyrosinemia |
| A defect in PBG deaminase is known as: | Acute Intermittent Porphyria |
| How is AIP treated? | Hematin infusion and high carb foods |
| A defect in Uroporphyrinogen synthase is known as: | Congenital Erythropoietic porphyria |
| Symptoms of CEP include: | Red urine and teeth; photosensitive skin -> disfiguring scars, anemia |
| Defect in Uroporphyrinogen decarboxylase is known as: | Porphyria Cutánea Tarda (PCT) |
| Defect in Coproporphyrinogen Oxidase is known as: | Hereditary Coproporphyria |
| A defect in protoporphyrinogen Oxidase is known as: | Variegate porphyria |
| A defect in ferrochetelase is known as: | Erythropoietic protoporphyria |
| What are the three diseases caused by defects in UGT1A1 gene? | Crigler-Najjar Syndrome I and II, Gilbert syndrome |
| What is the worse UDPGT (UGT1A1 gene) disease? | Crigler-Najjar Syndrome I (liver transplant) |
| What is caused by a mutation in MRP2 or cMOAT transporters? | Dubin-Johnson syndrome |
Created by:
Shana_m
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