Category Archives: Biochemistry

Alpha1-antitrypsin (AAT) deficiency

A thirty-year-old woman presented with progressive shortness of breath. She denied the use cigarettes. A family history revealed that her sister had suffered from unexplained lung disease. What etiology most likely explains this patient’s pulmonary symptoms? Alpha1-antitrypsin (AAT) deficiency This … Continue reading

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Hyperlipidemias

In the hyperilipidemias, the blood levels of cholesterol or triacylglycerols, or both, are elevated resulting from overproduction of lipoproteins or defects in various stages of their degradation. In familial hypercholesterolemia, cellular receptor for LDL are defective. Therefore, LDL cannot be … Continue reading

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Vitamin C (ascorbic acid) Deficiency

Vitamin C cannot be synthesized endogenously and therefore must be consumed in the human diet. This is typically not a problem, as ascorbic acid is abundantly found in fruits and vegetables (while also being present to a lesser extent in … Continue reading

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