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Step 1, 9.11.12

Unkie and Lysosomal diseases

QuestionAnswer
What is required to make norepi and epi? phenylalaine--->Tyr---> DA via B6--->norepi via vitamin C---->epi via SAM
What is the role of phenylalanine hydroxylase? Phe--->Tyr
What is the role of typrosine hydroxylase? tyr--->dihydroxyphenylalanine
What is the role of dopa decraboxylase? dihydroxyphernylalanine--->dopamine via B6
What is the role of dopamine betahydroxylase? dopamine to norepi via vit C
What is the role of phenmethylethanolamine N methy transferase? norepi---->epi via SAM
What do Dopa, nor epi, epi break down to and what breaks them down. dopamine-->HVA. norepi--->VMA. epi---->metanephrine. all by MAO and COMT
What is the mechanims of phenylketouria? decreased phenylalanine hydroxylase or tetrohydrobioterin cofactor. tyrosine becomes essential and phenylalanine in urine. AR inheritance
When is phenylketonuria screened for and why? 2-3 days after birth because of maternal enzymes.
What are the finidngs of phenylketonuria? mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor
How is phenylketonuria treated? decrease phenylalanine in ex. nutrasweet increase typrosine in diet
What is the mech and findings of maternal PKU? lack of proper dietary therapy during pregancy. microencephaly, mental retardation, CHD
What is the mech and inheritance of alkaptonuria? deficiencyof homogentisic acid oxidase in degradtion of tyr to fumarate. AR, benign
What are the findings of alkaptonuria? dark connective tissue, brown slcera, urine is black with prolonged exposure to air. possible arthralgia
what is the 2 possible mechanisms of albinism? deficiency of either 1. tyrosine (cant make melanin AR 2. defective tyrosine transporters or lack of migration of neural crest cells
What is the long term risk of albinism? skin cancer, varible inheritance due to heterogeneity
What are the 3 forms of homocystinuria? ALL AR 1. cystathionine synthase def 2. decr cystathionine synthase affinity for pyridoxal phosphate 3. homocysteine methyltransferase deficiency
How do you correct cystathione synthase deficiency?> causes homocystonuria, tx with decr met, increase cys incr B12, folate
How do you treat decr affinity for cytathinone synthase pyridoxal phosphate? increase B6
What are the findings in homocystinuria? increased homocystine in urine, mental retardation, osteoporisis, tall stature, kyphosis, len subluxation, atherosclerosis
What is the mech of cystinuria?> defect in renal tubular AA transporter for cysteine, ornithine, lysine, arginine in PCT of kidney. AR
What are the findings of cystinuria? cystine in urine, can cause cystine kidney stones (cystine staghorn calculi)
How do you treat cystinuria? acetazolamide to alkalinize the urine
What is the mech of maple syrup urine disease? cant degrade branched aa (Ile, Leu,Val) due to decr alpha ketoacid DH
What is the pneumonic for branched AA? I Love Vermont. Ile, Leu, Val. because accumulation causes maple syrup urine
What are the findings of maple syrup urine disease? sever CNS defect, retardation, urine smells like maple syrup
What is the mech of Hartnup disease? AR defective neutral AA transporter in intestine and kidneys
What are the findings of hartnup disease? tryptophan excretion. leads to pellagra
How is glycogenolysis coordinated with muscle activity? calmodulin in muscle activates phosphorylase kinase which triggers glycogenolyisis
What are the bonds and linkages of glycogen? braches are alpha 1,6 bonda and linkages are alpha 1,4 bonds
When does glycogenolyisis occur in the liver? to maintain blood sugar at appropriate levels
What is a mnemonic for the 4 major glycogen storage disease? Very Poor Carbohydrate Metabolism. Von Gierkes Pompes Disease, Coris disease, McCardles Disease
What are the findings and deficiency of Von Gierke's disease (type I)? def. Glucose 6 phosphatase. severe fasting hypoglycemia, incr glycogen in lver, increased lactate, hepatomegaly
What are the findings and deficiency of Pompe's disease (type II)? lysosomal alpha 1,4 glucosidae (acid maltase). F: cardiomegaly and systemic findings (liver and muscle)
What is the mnemoic for the effects of Pompes disease? Pompe's trashes the Pump (heart,liver,muscles)
What is the deficiency and findings of Cori's disease (type III)? milder form of type I with normal lactate. missing debranching enzyme (alpha 1,6 glucosidase)
What is unique about Cori's disease among the glycogen storage ones? gluconeogenesis is intact
What are the findings and deficiency of McArdel's disease (type V)? incr glycogen in muscle, cant break it down so painful muscle cramps, myoglobinuria with strenuous exercise. Missing skeletal muscle glycogen phopsphorylase
What body part is mostly affected by McArdels disease? muscle
Created by: tjs2123
 

 



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