Seidler Biochem Flashcards
What are two UDP-glucotransferase diseases?
Crigler-Najjar syndrome (type 1 and 2)
Gilbert syndrome
What is type 1 crigler-najjar syndrome? What is the result? What is it associated with?
Complete absence of gene coding UDP-glucotransferase
Results in severe hyperbilirubinemia
Associated with encephalopathy and kernicterus (bilirubin accumulates in brain)
What is Gilbert syndrome?
Decreased activity of UDP-glucotransferase
What is Hemin? What is it used to treat? What does it inhibit?
Hemin is a ferric iron containing porphryin
Used to treat acute intermittent porphria caused by defective porphobilinogen deaminase
Inhibits ALA synthase to prevent ALA buildup
What veins create the hepatic portal system?
What is the purpose of this system?
Hepatic portal system is created by SMV and splenic v joining
Connects the GI to liver and mediates transport of absorbed nutrients and drugs
What is Wilsons disease? What are some outcomes of this disease?
Wilsons disease is due to copper build up leading to cirrhosis and portal hypertension
Associated with corneal deposits-Kayser ring
What is hemochromatosis? What does it cause?
Hemachromatosis is due to accumulation of hemosiderin and iron deposition
Causes cirrhosis, portal hypertension, and diabetes
What is the cause of galactosemia and what does it result in?
Galactosemia is a result of a deficiency in enzymes that metabolize galactose resulting in accumulation of galactitol in lens of eye
What is the difference between classic and non classic galactosemia?
Classic- deficient galactose-1-phosphate enzyme means galactose1phostphate doesn’t covert to glucose-1-P and leads to cataracts, jaundice, and hepatomegaly
Nonclassic- defective galactokinase means galactose isn’t coverted to galactose-1-P and leads to galactose in urine and blood
What is the cause of hereditary fructose intolerance? What are results of disease?
Deficient aldolaseB which leads to fructose-1-P and fructose buildup
Causes liver damage, low blood phosphorus, and low blood glucose
What is a Type 1a glycogen storage disease?
What is the cause?
What are results of disease?
Von Gierke disease
Deficient glucose-6-phosphatase (can’t free glucose)
Hypoglycemia, lactic acidosis, hepatomegaly
What is the cause of Type 1B glycogen storage disease?
Defective transporter results in failure to transport glucose-6-phosphate
PEPCK deficiency is a disorder of what type of metabolism?
Carbohydrate metabolism
