Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events. / Rasmussen, Jan; Nielsen, Olav W; Lund, Allan M; Køber, Lars; Djurhuus, Høgni.

In: Journal of Inherited Metabolic Disease, Vol. 36, No. 1, 2013, p. 35-41.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Rasmussen, J, Nielsen, OW, Lund, AM, Køber, L & Djurhuus, H 2013, 'Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events', Journal of Inherited Metabolic Disease, vol. 36, no. 1, pp. 35-41. https://doi.org/10.1007/s10545-012-9488-8

APA

Rasmussen, J., Nielsen, O. W., Lund, A. M., Køber, L., & Djurhuus, H. (2013). Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events. Journal of Inherited Metabolic Disease, 36(1), 35-41. https://doi.org/10.1007/s10545-012-9488-8

Vancouver

Rasmussen J, Nielsen OW, Lund AM, Køber L, Djurhuus H. Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events. Journal of Inherited Metabolic Disease. 2013;36(1):35-41. https://doi.org/10.1007/s10545-012-9488-8

Author

Rasmussen, Jan ; Nielsen, Olav W ; Lund, Allan M ; Køber, Lars ; Djurhuus, Høgni. / Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events. In: Journal of Inherited Metabolic Disease. 2013 ; Vol. 36, No. 1. pp. 35-41.

Bibtex

@article{90fbb6cfe684423e897feef50a644ad7,
title = "Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events",
abstract = "Several episodes of sudden death among young Faroese individuals have been associated with primary carnitine deficiency (PCD). Patients suffering from PCD have low carnitine levels and can present with metabolic and/or cardiac complications. Pivalic acid exposure decreases carnitine levels. The purpose of this study was to investigate and describe the association and pathophysiology of exposure to antibiotics containing pivalic acid and severe neurological and cardiac complications in six identified subjects suffering from PCD.",
author = "Jan Rasmussen and Nielsen, {Olav W} and Lund, {Allan M} and Lars K{\o}ber and H{\o}gni Djurhuus",
year = "2013",
doi = "10.1007/s10545-012-9488-8",
language = "English",
volume = "36",
pages = "35--41",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer",
number = "1",

}

RIS

TY - JOUR

T1 - Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

AU - Rasmussen, Jan

AU - Nielsen, Olav W

AU - Lund, Allan M

AU - Køber, Lars

AU - Djurhuus, Høgni

PY - 2013

Y1 - 2013

N2 - Several episodes of sudden death among young Faroese individuals have been associated with primary carnitine deficiency (PCD). Patients suffering from PCD have low carnitine levels and can present with metabolic and/or cardiac complications. Pivalic acid exposure decreases carnitine levels. The purpose of this study was to investigate and describe the association and pathophysiology of exposure to antibiotics containing pivalic acid and severe neurological and cardiac complications in six identified subjects suffering from PCD.

AB - Several episodes of sudden death among young Faroese individuals have been associated with primary carnitine deficiency (PCD). Patients suffering from PCD have low carnitine levels and can present with metabolic and/or cardiac complications. Pivalic acid exposure decreases carnitine levels. The purpose of this study was to investigate and describe the association and pathophysiology of exposure to antibiotics containing pivalic acid and severe neurological and cardiac complications in six identified subjects suffering from PCD.

U2 - 10.1007/s10545-012-9488-8

DO - 10.1007/s10545-012-9488-8

M3 - Journal article

C2 - 22566287

VL - 36

SP - 35

EP - 41

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 1

ER -

ID: 48506380