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Step 1, 9.11.12
Unkie and Lysosomal diseases
| Question | Answer |
|---|---|
| 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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