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Journal of General Internal Medicine

Erschienen in:

01.02.2008 | Case Reports/Clinical Vignettes

Hyperammonemic Encephalopathy Caused by Carnitine Deficiency

verfasst von: Berkeley N. Limketkai, M.D., Stephen D. Zucker, M.D.

Erschienen in: Journal of General Internal Medicine | Ausgabe 2/2008

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Abstract

Carnitine is an essential co-factor in fatty acid metabolism. Carnitine deficiency can impair fatty acid oxidation, rarely leading to hyperammonemia and encephalopathy. We present the case of a 35-year-old woman who developed acute mental status changes, asterixis, and diffuse muscle weakness. Her ammonia level was elevated at 276 μg/dL. Traditional ammonia-reducing therapies were initiated, but proved ineffective. Pharmacologic, microbial, and autoimmune causes for the hyperammonemia were excluded. The patient was severely malnourished and her carnitine level was found to be extremely low. After carnitine supplementation, ammonia levels normalized and the patient’s mental status returned to baseline. In the setting of refractory hyperammonemia, this case illustrates how careful investigation may reveal a treatable condition.

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Titel: Hyperammonemic Encephalopathy Caused by Carnitine Deficiency
verfasst von: Berkeley N. Limketkai, M.D.
Stephen D. Zucker, M.D.
Publikationsdatum: 01.02.2008
Verlag: Springer-Verlag
Erschienen in: Journal of General Internal Medicine / Ausgabe 2/2008
Print ISSN: 0884-8734
Elektronische ISSN: 1525-1497
DOI: https://doi.org/10.1007/s11606-007-0473-0

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