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

doi:10.1016/S0022-3476(78)81219-0

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

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Abstract

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)
Pages (from-to)	959-964
Number of pages	6
Journal	Journal of Pediatrics
Volume	93
Issue number	6
DOIs	https://doi.org/10.1016/S0022-3476(78)81219-0
State	Published - 1978

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(78)81219-0

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title = "Systemic carnitine deficiency: Report of a fatal case with multisystemic manifestations",

abstract = "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.",

author = "Ware, {A. J.} and Burton, {W. C.} and McGarry, {J. D.} and Marks, {J. F.} and Weinberg, {A. G.}",

year = "1978",

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AU - Ware, A. J.

AU - Burton, W. C.

AU - McGarry, J. D.

AU - Marks, J. F.

AU - Weinberg, A. G.

PY - 1978

Y1 - 1978

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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