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3 Cards in this Set
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- Back
- 3rd side (hint)
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3yr old boy presents with hypoglycemia, Jaundice, Cirrhosis and Vomiting. His mom states that he just got switched to whole meal type foods. This patient is Deficient in What? Diagnosis? treatment?
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Aldolase B Def.
Fructose intolerance Treat by decreasing intake of fructose and sucrose (glucose + fructose) NOTE: Moms milk, and cows milk based formulas generally contain only Lactose (kid wont have problems). But, Soy based formulas contain either Sucrose or Corn Syrup = bad news bears! |
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Patient presents with Neuropathy of the hands and feet with angiokeratomas. You suspect a metabolic disease. What is it called and What enzyme is Difficient?
Gauchers/Sphingomyelinase Krabbes/Galactocerebrosidase Fabry's/Alpha-Galactosidase A Hurlers/ B-glucocerebrosidase |
Fabrys disease/Alpha Galactosidase A
What Substrate will Accumulate? |
Ceramide Trihexoside
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Young Male presents with trouble walking and hip pain. Physical exam shows hepatosplenomegaly. You suspect Gauchers Disease. You order a blood smear, what do you expect to see?
PAS Positive cells resembling crumpled paper Gram + Diplococci Hyphea and Pseudohyphae |
Cells that look like crumpled tissue paper
What Enzyme is Deficient and what substrate will Accumulate Hexosaminidase A/ GM-Ganglioside Iduronate Sulfatase/Heparan Sphingomyelinase/Sphingomyelin B-Glucocerbrosidase/ Glucocerebroside |
B-Glucocerebrosidase/Glucocerebroside
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