A 16-year-old girl, previously in good health, developed progressive generalized muscle weakness following her first parturition. The neck and proximal limb muscles were especially weak and painful. Carnitine (4-trimethylamino-3-hydroxybutyrate) was markedly decreased in muscle, plasma, and urine. Dietary carnitine supplementation, 2.0 gm daily, was followed by clinical improvement and decreased lipid droplets in muscle biopsy. Together with previously reported cases, 2 fatal, the patient's illness emphasizes the risk of pregnancy in women with carnitine deficiency.
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Angelini et al. (1978) studied this question.
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