Carbohydrate Metabolism Diseases 3-12 Sarge Flashcards
Symptoms and cause of galactosemia
liver, renal dysfunction, cataracts, abdormal neurodevelopment, ovarian premature failure - caused by inability to break down lactose or galactose for metabolism, buildup of galactose
What does GALT stand for? What disease is it associated with? What is its normal function?
galactose-1-phosphate-uridyl transferase (GALT) Normally converts glactose to glucose (galactose-1-phosph –> glucose-1-phosph)- deficiency of GALT causes galactosemia,
How is galactosemia treated
by banning foods containing lactose and galactose
What defect causes lactose intolerance?
absence of lactase expression on the gut epithelium
What reactions cause the symptoms of lactose intolerance?
water flows into the small intestines due to high concentrations of lactose, bacteria in the small intestines ferment some of the lactose into lactic acid, acetic acid, H2, and CO2 causing distension in the large intestines
Why are some adults lactose intolerant and others are not?
domestication of animals combined with random mutations in isolated populations in europe made lactose intolerance a rare occurence.
Symptoms and causes of Glycogen Storage diseases
normal-structured glycogen, but expressed at higher levels causes enlarged livers, failure to thrive, muscle weakness, hypoglycemia, cardiorespiratory failure
What mutation caused europeans to evolve lactase persistance
polymorphism in the MCM6 gene next to the lactase gene LCT
Types of Glycogen Storage diseases
type I: von Gierke type II: pompe
What is the dysfunction in von Gierke’s disease and how is it treated?
Enzyme glucose-6-phosphotase is not functional, so not able to convert glucose-6-P to glucose (gluconeogenesis). Treated by alleviating dependence on glyogogen with controlled frequent feedings
What is the dysfunction in Pompe disease
deficiency in lysosome enzyme alpha-1,4-glucosidase that converts glycogen to glucose. Very detrimental to muscle cells because they have sensitive lysozomes that expand and leak glycogen- death at 2 years.
How is Pompe disease treated?
Treated by administering the enzyme analog Myozyme to bloodstream - enzyme replacement therapy (ERT)- $300K
