Systemic carnitine deficiency: Report of a fatal case with multisystemic manifestations

A. J. Ware, W. C. Burton, J. D. McGarry, J. F. Marks, A. G. Weinberg

Research output: Contribution to journalArticle

44 Scopus citations


A 14-year-old boy presented with recurrent and intractable hypoglycemia. He developed marked hepatic dysfunction and a severe myopathy. The diagnosis of systemic carnitine deficiency was not made until after his death from acute cardiac arrest. The recognition that systemic carnitine deficiency may present with multisystemic manifestations may allow earlier diagnosis and potentially effective replacement therapy in other patients so afflicted.

Original languageEnglish (US)
Pages (from-to)959-964
Number of pages6
JournalJournal of Pediatrics
Issue number6
StatePublished - Jan 1 1978


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this