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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adipose Tissue / metabolism
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Adipose Tissue / pathology
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Breast Feeding
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Carnitine Acyltransferases / analysis
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Carnitine Acyltransferases / blood
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Carnitine Acyltransferases / deficiency*
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Carnitine Acyltransferases / genetics
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Diet, Vegetarian
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Fasting
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Fatty Acids / metabolism
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Fatty Liver / metabolism
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Fatty Liver / pathology
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Female
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Heterozygote
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Humans
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Infant Food
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Infant, Newborn
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Lipid Metabolism, Inborn Errors / blood
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Lipid Metabolism, Inborn Errors / genetics
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Male
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Myocardium / metabolism
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Myocardium / pathology
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Pregnancy
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Prenatal Exposure Delayed Effects
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Stress, Physiological / physiopathology
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Sudden Infant Death / etiology*
Substances
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Fatty Acids
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Carnitine Acyltransferases