Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Journal of Inherited Metabolic Disease |
Volume | 36 |
Issue number | 1 |
Pages (from-to) | 35-41 |
Number of pages | 7 |
ISSN | 0141-8955 |
DOIs | |
Publication status | Published - 2013 |
ID: 48506380