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Erschienen in:

01.05.2020 | Case report

Epinephrine/glucose/levocarnitine

Lack of efficacy: case report

Erschienen in: Reactions Weekly | Ausgabe 1/2020

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A 26-month-old boy exhibited lack of effect while being treated with glucose, epinephrine and levocarnitine for carnitine-acylcarnitine translocase (CACT) deficiency. The boy had CACT deficiency with novel homozygous missense SLC25A20 mutation. At 26 months of age, he presented with a tonic-clonic seizure, along with symptoms of hypoglycaemia and arrhythmia (wide QRS). He was hospitalised in Japan, and was treated with 20% glucose infusion, epinephrine and levocarnitine [L-carnitine; not all dosages and routes stated]. Despite the therapy, he died of cardiac arrest. Postmortem examination revealed underlying CACT deficiency. …

Chinen Y, et al. A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data. Human Genome Variation 7: 11, No. 1, 2020. Available from: URL: http://doi.org/10.1038/s41439-020-0098-y

Titel: Epinephrine/glucose/levocarnitine
Lack of efficacy: case report
Publikationsdatum: 01.05.2020
Verlag: Springer International Publishing
Erschienen in: Reactions Weekly / Ausgabe 1/2020
Print ISSN: 0114-9954
Elektronische ISSN: 1179-2051
DOI: https://doi.org/10.1007/s40278-020-79142-5

Springer Medizin

Epinephrine/glucose/levocarnitine

Lack of efficacy: case report

Auszug

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