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 language||English (US)|
|Number of pages||6|
|Journal||Journal of Pediatrics|
|State||Published - 1978|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health