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October 2021

J Pediatr. 1997 Aug; 131(2): 304-5.

Sudden neonatal death in carnitine transporter deficiency.

Rinaldo P, Stanley CA, Hsu BY, Sanchez LA, Stern HJ.

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.

A newborn infant died suddenly and unexpectedly on day 5 of life. Postmortem investigations led to a suspicion of carnitine transporter deficiency, a diagnosis supported by the finding that both parents are heterozygotes for this disorder. The fasting stress caused by poor breast-feeding with no formula supplements and, possibly, the vegetarian diet of the mother were likely the critical factors leading to neonatal death, an outcome previously not described in this disorder.

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