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CPT I Deficinecy

CPT I Deficinecy

Introduction, cause, symptoms, diagnosis, misdiagnosis and treatments of CPT I deficiency
Definition:
CPT I (Carnitine palmitoyltransferase I) deficinecy is a rare autosomal recessive metabolic disorder that prevents the body from converting certain fats called long chain fatty acids into energy and is generally associated with a viral illness and prolonged fasting. Onset is in infancy or early childhood.
Cause:
Homozygous mutation in the …

Hypokalemia

Hypokalemia

Causes, effects,  diagnosis, prevention and treatment of hypokalemia
Around 95% of the body’s K+ is found inside cells and remaining in the blood. It is essential for several body functions including nerve and muscle activity. It plays an important role in the repolarization of the cell membrane to a resting stage after an action potential has passed. Decreased K+ levels in …

Glycogen Metabolism and Glycogen storage Diseases

Glycogen Metabolism and Glycogen storage Diseases

GLYCOGEN:
Glycogen is the major storage carbohydrate in animals, corresponding to starch in plants; it is a branched polymer of α-D-glucose. It is stored mainly in liver and muscle. Due to more muscle mass, the quantity of glycogen in muscle (250gm) is about 3 times higher than that in the liver (75gm).
Functions:
a. Liver glycogen helps to maintain blood glucose level:
Liver glycogen …

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