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27 Cards in this Set
- Front
- Back
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what are some features of classic galactosemia
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fail to thrive, vomiting, appear a few days following milk injestion, diarrhea
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pathologic findings in galactosemia?
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steatosis of hepatocytes, brain will show edema, gliosis, neuronal necrosis
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what other disorders may cause elevated levels of galactose?
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galactokinase, & UDP-gal-4-epimerase
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what different forms of glycogen metabolism do we study/
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hepatic, myopathic, systemic
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what enzyme is deficient in von gierke disease?
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g-6-p
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pathologic/clinical findings in von gierke's disease?
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fail to thrive, heptaomegaly, fasting hypoglycemia, lipidemia with xanthomas
pathologic: accumulation of glycogen (can't break it down) in hepatocytes & renal tubular epithelia cells |
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which enzyme is mcArdles deficient in?
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myophoshphorylase or muscle phosphorylase (RQ'D for glycogen --> glucose 1 phosphate --> lactate)
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what will be absent in blood after excersize in McArdles?
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lactate, pts will have muscle cramps
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how to diagnose mcArdle?
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sk muscle biopsy (low levels of myophosphorylase and accumulation of glycogen)
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what is deficient in pompe's disease?
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alpha-1,4-glucosidase (acid maltase)
DE-branching enzyme |
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what dominates the clinical picture in pompe's?
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cardiomegaly, death by 2 of heart failure
CAN'T POMP THE HEART |
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which enzyme is deficient in anderson's disease?
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amylo-1,4 to 1,6-trasnglucosidase
helps with branching of glycogen |
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what is the clinical picture like in anderson's disease?
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cirrhosis, ascites, death within 2 years
B. ANDERSON IS A FAT DRUNK WHO ACTS LIKE A 2 YEAR OLD |
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what is deficient in PKU?
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phenyalanine hydroxylase (phenylalanine --> tyrosine)
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what are the varient forms of PKU?
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def in:
1. tetrahydrobiopterin (type 2) 2. dihydropteridine reductase (type 3) |
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clinical features of PKU?
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mental retardation, fair hair/blue eyes, musty body odor, eczema
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what is deficient in cystic fibrosis?
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impaired transport of chloride
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how is CF transmitted genetically?
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recessive, mutation in CFTR gene
passage of Cl- and water are reduced which causes decreased water content of secretions |
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what is the most common genotype for CF?
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F508 deletion
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which organs are most heavily effected in CF?
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lungs (thick secretions, breeding ground for orgs), pancrease (blocks ducts, backup of enzymes... bad), intestines (blockage), vas deferens (males are commonly sterile)
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what is deficient in Marfhans?
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extracellualr matrix microfibril protein
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what is the genetric pattern of NF1?
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autosomal dominant, variable expressivity
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what is increased in NF1?
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neurofibromin
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what are some clinical features of NF?
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peripheral nerve tumors, cafe au lait spots, optic gliomas
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NIH diagnostic criteria for NF?
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2 or more: 6+ cafe-au-lait spots, inguinal freckling, pigmented hamartomas, optic glioma, thinking of long bones, first degree relative meeting criteria
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what is NF2?
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autosomal dominant, pts develop a wide range of tumors of spinal chord
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which protein is mutated in NF2?
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merlin
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