Question

In: Biology

A patient has glycogen storage disease. They are 2 months old. She is hypoglycemic despite being...

A patient has glycogen storage disease. They are 2 months old. She is hypoglycemic despite being fed every two hours. When epinephrine is administered, why is there is an increase in blood lactate?

Solutions

Expert Solution

Glycogen storage disease type I (GSD-I; Von Gierke disease) is an autosomal recessive inborn error of carbohydrate metabolism caused by defects of the glucose-6-phosphatase (G6Pase) complex. G6Pase catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate in the terminal steps of gluconeogenesis and glycogenolysis. The genes responsible for GSD I include are G6Pase and G6P transporter genes. G6Pase deficiency results in excessive accumulation of glycogen in the liver and kidney, leading to progressive hepatomegaly and renal enlargement. As in liver glucose is formed by lactate, but because glucose is not formed, lactate amount increases. Lactic acidosis (high lactic acid) occurs as lactate generated during hepatic glycolysis cannot be converted to glucose. Epinephrine is responsible for glycogen breakdown into G1P but as G6Pase is mutated instead of glucose, lactate is produced, cause increase in lactate concentration and thus lactic acidosis.

The decrease in glucose level in blood cause hypoglycemia and leads to the elevation of plasma glucagon levels, activating glycogen phosphorylase.The activation promotes the further elevation of G6P levels, resulting in a decrease of intrahepatic phosphate that inhibits AMP deaminase. This decrease stimulates AMP deaminase, resulting in the degradation of adenine nucleotides and consequent overproduction of uric acid. Lactic acidosis and ketonemia also decreases renal uric acid excretion by stimulation of uric acid reabsorption.


Related Solutions

glycogen storage disease cause changes in metabolism in the item below increased in a patient with...
glycogen storage disease cause changes in metabolism in the item below increased in a patient with non-Gierke disease : 1- glycolysis choose the larger of the 2 choices if the values are the same write same: 1) - number of ATPs obtained from one glucose in a muscle cell - number of ATPs obtained from one glucose in a liver cell - same 2) - number of ATP from one glucose in a liver cell - number of ATP from...
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle....
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle. The symptoms are muscle cramps, pain, and fatigue during strenuous exercise. A) An ischemic exercise test is often used as part of the diagnostic process. This test measures lactate in the blood but is not always specific for McArdle. Explain why lactate might be a good diagnostic measurement for this disease and how its production is regulated in muscle in a normal person versus...
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle....
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle. The symptoms are muscle cramps, pain, and fatigue during strenuous exercise. A) An ischemic exercise test is often used as part of the diagnostic process. This test measures lactate in the blood but is not always specific for McArdle. Explain why lactate might be a good diagnostic measurement for this disease and how its production is regulated in muscle in a normal person versus...
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle....
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle. The symptoms are muscle cramps, pain, and fatigue during strenuous exercise. An ischemic exercise test is often used as part of the diagnostic process. This test measures lactate in the blood but is not always specific for McArdle. Explain why lactate might be a good diagnostic measurement for this disease and how its production is regulated in muscle in a normal person versus a...
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle....
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle. The symptoms are muscle cramps, pain, and fatigue during strenuous exercise. A patient is undergoing an ischemic exercise test and is fed 13C glucose prior to the test and then blood is drawn after the test. Explain how the following substrates would be labeled 1) alpha-ketoglutarate, 2) glucose 3) ribose, and 4) alanine.
Your patient is an 82 year old female patient who has late stage Alzheimer’s disease. She...
Your patient is an 82 year old female patient who has late stage Alzheimer’s disease. She has been increasingly confused and agitated, was found to be hypotension and tachycardia and was brought to the emergency department for treatment. The ED began to treat her for dehydration and she is being admitted to the medical unit for further treatment and monitoring. What are your primary concerns for this patient and what assessments and interventions would be associated with your concerns and...
A 47-year-old patient has smoked for 25 years. The patient has a history of cardiovascular disease...
A 47-year-old patient has smoked for 25 years. The patient has a history of cardiovascular disease and now he has noticed his lower legs have been aching and are pale, hairless, and diminished or absent pulses. Develop assessment questions you would ask this patient to learn more about his problem. Explain the most likely pathophysiology. Describe the structures of the circulatory system most likely impacted by the patient’s symptoms. Describe key considerations regarding the education for the patient and his...
A patient has been in the hospital for 31 days and being treated for depression. She...
A patient has been in the hospital for 31 days and being treated for depression. She was given various medications, including sedatives. During her time in the hospital, she was described as lethargic, tired, and drowsy. On the morning of her discharge, nursing staff woke her on four occasions, but each time she fell asleep again. When woken at lunchtime the patient was told the bed was needed for another patient. Whilst in the shower her bags were packed by...
Discussion - Bariatric Surgery Patient EJ is a 28-year-old female. She is being admitted for Gastric...
Discussion - Bariatric Surgery Patient EJ is a 28-year-old female. She is being admitted for Gastric Bypass Surgery. She is 5'6'' and 265 pounds. She has a history of Diabetes and hypertension, she is not on medications at the time. What client education topics are important to reinforce for this client? How will this client's diet be advanced? What complications can occur after this surgery? What is Dumping Syndrome and what are some interventions to help prevent its development?
A 29-year-old female patient who is 8-months pregnant is having an emergency appendectomy. She will have...
A 29-year-old female patient who is 8-months pregnant is having an emergency appendectomy. She will have to receive general anesthesia for the procedure. 1. What anatomical changes have taken place in the patient that must be taken into account for this case? 2. How might the patient’s laboratory tests be changed by her being pregnant? 3. What additional emergency procedure should the CST be prepared to quickly set up and assist the surgeon? 4. What postoperative symptoms should be closely...
ADVERTISEMENT
ADVERTISEMENT
ADVERTISEMENT