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What type of condition the patient is suffering from? A patient reports to you that he has had aches and pains in his muscles for the past seven days. A blood test shows increased levels of creatine kinase MM, fatty acids and also myoglobin. A second blood sample, this time is taken after an overnight fast, revealed low levels of blood glucose and elevated very-low-density lipoprotein (VLDL).



A. Essential amino acid deficiency
B. Type 1 glycogen storage disease
C. Acute alcohol toxicity
D. Carnitine acyltransferase deficiency
E. Elevated insulin levels, which cause the hypoglycemia and increase fatty acid mobilization from adipose tissue

This question is part of

Block 6 The Buxbaum files
Asked by Garroway, Last updated: Mar 28, 2020

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3 Answers

O.Olivia

O.Olivia

Answered Feb 10, 2020

Acute alcohol toxicity occurs when someone drinks too much alcohol in a very short time. Conventional medical alcohol poisoning treatments include IV fluid replacement, IV vitamin, and glucose replacement, monitoring to prevent breathing and choking issues, and oxygen therapy. Excessive consumption of alcohol can cause blood sugar levels to drop to deficient levels, which is a concern.

This drop is because the liver has to work to remove the alcohol, as opposed to controlling your blood sugar. When the total creatine kinase is elevated, it can have a detrimental effect on your kidneys. Too much myoglobin is also harmful to the kidneys. When very-low-density lipoprotein rises, it has a significant impact on your triglycerides.

 

H.Harper

H.Harper

Answered Feb 07, 2020

The correct answer to this question is D, Carnitine acyltransferase deficiency. This can also be referred to as CPT I. This is a condition that prevents the body from using fats for energy. This is particularly the case when fasting is occurring. This condition can be very severe, dependent upon who is affected.

Symptoms of the condition start during childhood. A person that is affected by the disease may have hypoglycemia, which is low blood sugar, as well as a low level of ketones. Affected persons also normally have an enlarged liver and have high levels of carnitine in their blood.

 

John Smith

John Smith

Answered Sep 09, 2016

Carnitine acyltranferase deficiency-diseases of carnitine shuttlesystemic primary carnitine deficiency: slc22a5 gene on chromosome 5q31.1, renal re-uptake transporter octn2 (na+-cotransport). frequency faroe islands 1 in every 500, otherwise 1 in several 10000. omim #212140.hypoketotic hypoglycemia, reye-syndrom like episodes, lethargy, somnolence, hepato- and cardiomegaly.treatment: oral supplementation of carnitinecarnitine palmitoyltransferase i deficiency: hypoketotic hypoglycemia, reye-syndrom like episodes,hepatomegaly, muscle weakness. omim #255120.treatment: prevent hypoglycemia with short- and medium-chain fa in dietcarnitine-acylcarnitine translocase deficiency: presents within hours of birth with seizures, bradycardia, breathing problems, hypoketotic hypoglycemia, hyperammonemia, hepatomegaly, cardiomyopathy, muscle weakness, sudden infant death. omim #212138. treatment: low lipid intake, medium chain fa, carnitine, avoid strenuous exercise.carnitine palmitoyltransferase ii deficiency: three forms:adult: omim #255110. muscle problems (myalgia, rhabdomyolysis, myoglobinuria) during attacks, otherwise normal. attacks induced by exercise, fasting, high-fat diet, infection. highly variable age of onset, | more strongly affected.infantile: omim #600649. age of onset usually _ 1a, but sometimes later. hypoketotic hypoglycemia, loss of consciousness and seizures, hepato- and cardiomegaly.neonate: omim #608836. onset hours to days after birth, rapidly fatal from cardiac, respiratory or liver failure.neuronal migration defects, kidney dysorganization. carnitine formed in liver and kidney from lys and metsupplementation not required in healthy individual 12 c-atoms pass membrane by diffusiondistribution of acyl-coa between cytosol (anabolic) and mito (catabolic)rate-limiting step of fa breakdown! ( slide 20-22 f.a metab-bux)
 

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