e Galactosemia results from a congenital inability to metabolize galactose to

E galactosemia results from a congenital inability to

This preview shows page 5 - 6 out of 6 pages.

e. Galactosemia results from a congenital inability to metabolize galactose to glucose. It is a severe disease that is inherited as an autosomal recessive trait. The source of galactose is the disaccharide sugar lactose, which is present in a mother’s breast milk. In the stomach, the lactose is broken down into its monosaccharide components, galactose and glucose, by the enzyme lactase. It is the galactose-1- phosphate which is responsible for the highly toxic effects in the liver, the lens of the eyes and the brain. There are 3 forms of galactosemia. The most common galactosemic arises from the absence of the enzyme galactose-1-phsphate uridyl transferase which catalyzes step 2 in the galactose metabolic pathway. This enzyme is responsible for the conversion of galactose-1-phosphate to UDP-galactose which is eventually converted to glucose-1-phosphate. A galactosemic patient may lack the enzyme galactokinase which catalyzes the phosphorylation of galactose to galactose-1- phosphate. The third defect associated with galactosemia is the deficiency in the epimerase enzyme, step 3 in the metabolic pathway affecting galactose. Symptoms in children include diarrhea, jaundice and vomiting after breast feeding. 6. Outline the criteria established by the National Diabetes Data Group used for the diagnosis of diabetes mellitus a) the patient presents with the classical symptoms of diabetes mellitus (polyuria, polydipsia, rapid weight loss) an unequivocal elevation of serum or plasma glucose; the fasting glucose level on more than one occasion being greater than 7.8mmol/L. An oral glucose tolerance test is not required to confirm the diagnosis. b) the patient presents as above, however, the fasting blood glucose is below 7.8mmol/L. An oral glucose tolerance test is conducted. In order to make the diagnosis of diabetes mellitus the 2-hour and some other samples taken during the GGT must be greater than 11.1mol/L. c) the diagnosis of diabetes mellitus in children required the same criteria as stated in #a, but the fasting glucose level must be consistently above 11.1mmol/L. In asymptomatic individuals the result of the GTT must be as stated in #b in order to make the diagnosis. 7. Diabetes Mellitus in an adult
Image of page 5

Subscribe to view the full document.

Test Result Reference Na 123 132 – 144 mmol/l K 7.8 3.1 – 5.0 mmol/L HCO 3 3 21- 32 mmol/L BUN 16 3 - 8.0 mmol/L Glucose 30 3.1 - 6.1 mmol/L a. Explain the Na results b. Explain the K result c. Explain the HCO3 result The Na results suggest the patient has hyponatremia. It is a condition where the level of sodium in the blood is too low. The K results suggest the patient has hyperkalemia. It is a condition that causes elevated blood potassium levels. Bicarbonate a form of carbon dioxide helps to regulate our blood level pH. The patient has low bicarbonate levels which leads to metabolic acidosis as we read in previous units. 8. Indicate the tests you would recommend monitoring a diabetic patient. Explain your reasons. HbA1C (glycosylated hemoglobin test)- provides a picture of your average blood sugar control for the past two months.
Image of page 6
  • Fall '16

What students are saying

  • Left Quote Icon

    As a current student on this bumpy collegiate pathway, I stumbled upon Course Hero, where I can find study resources for nearly all my courses, get online help from tutors 24/7, and even share my old projects, papers, and lecture notes with other students.

    Student Picture

    Kiran Temple University Fox School of Business ‘17, Course Hero Intern

  • Left Quote Icon

    I cannot even describe how much Course Hero helped me this summer. It’s truly become something I can always rely on and help me. In the end, I was not only able to survive summer classes, but I was able to thrive thanks to Course Hero.

    Student Picture

    Dana University of Pennsylvania ‘17, Course Hero Intern

  • Left Quote Icon

    The ability to access any university’s resources through Course Hero proved invaluable in my case. I was behind on Tulane coursework and actually used UCLA’s materials to help me move forward and get everything together on time.

    Student Picture

    Jill Tulane University ‘16, Course Hero Intern

Ask Expert Tutors You can ask You can ask ( soon) You can ask (will expire )
Answers in as fast as 15 minutes