Carnitine transport defect* (3 months to 7 years) CPI I deficiency

Long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD, trifunctional enzyme) ADULTHOOD

CPI II deficiency (classical exercise-induced myoglobinuria)* (adult) *Discussed in text.

approach includes history; physical/neurological examination; routine laboratory studies, particularly including liver and urine function tests and determination of electrolytes, pH, lactate, pyruvate, ammonia, blood glucose, and urine ketones; blood free carnitine and acylcarnitines; and urine gas chromatography/mass spectrometry for organic acids. This is followed by specialized techniques, including specific biochemical enzymatic analysis and molecular analysis. Because the enzymes in the beta-oxidaton spiral exist in different forms with chain specificities that overlap and because oxidation of unsaturated fatty acids requires different enzymes, it is expected that other diseases of fatty acid oxidation involving enzymes in these steps will be described in the future.

Alcohol No More

Alcohol No More

Do you love a drink from time to time? A lot of us do, often when socializing with acquaintances and loved ones. Drinking may be beneficial or harmful, depending upon your age and health status, and, naturally, how much you drink.

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