A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency
| Autor: | Kosuke Yanagimoto, Shinsuke Maruyama, Yasuhiro Okamoto, Yasuyuki Kakihana, Naohiro Ikeda, Go Tajima, Ryo Imakiire, Shunji Seki, Yumiko Ninomiya, Yoshifumi Kawano, Kanna Nakano, Keiichi Hara |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics Short Communication Neonatal onset CPT II deficiency 03 medical and health sciences 0302 clinical medicine Endocrinology Genetics medicine Hyperammonemia In patient Carnitine Intensive care medicine lcsh:QH301-705.5 Molecular Biology lcsh:R5-920 business.industry Intensive treatment Continuous hemodialysis medicine.disease CPT II Deficiency 030104 developmental biology lcsh:Biology (General) Neonatal-onset Prolonged survival Carnitine palmitoyltransferase II deficiency lcsh:Medicine (General) business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 69-71 (2017) |
| ISSN: | 2214-4269 |
| Popis: | The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency. |
| Databáze: | OpenAIRE |
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