Sudden neonatal death in carnitine transporter deficiency - 11/09/11
From the Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; the Department of Endocrinology/Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; the Office of the Chief Medical Examiner, Washington, D.C.; and the Genetics and IVF Institute, Fairfax, Virginia.
Abstract |
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. (J Pediatr 1997; 131: 304-5)
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 | Supported in part (Dr. Stanley) by National Institutes of Health grant R01-43841. |
| Reprint requests: Piero Rinaldo, MD, Yale University School of Medicine, Department of Genetics, NS-393, 333 Cedar St., PO Box 208005, New Haven, CT 06520-8005. |
 | 0022-3476/97/$5.00 + 0 9/22/78378 |
Vol 131 - N° 2
P. 304-305 - août 1997 Retour au numéro
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