Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study
Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. Hyperammonemia is a critical complication, often resistant to conventional treatment. Here,...
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| Format: | Article |
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Elsevier
2025-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S221442692500014X |
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| author | Hanım Babazade Tanyel Zubarioglu Esma Uygur Mehmet Şerif Cansever Ertuğrul Kiykim Çiğdem Aktuğlu Zeybek |
| author_facet | Hanım Babazade Tanyel Zubarioglu Esma Uygur Mehmet Şerif Cansever Ertuğrul Kiykim Çiğdem Aktuğlu Zeybek |
| author_sort | Hanım Babazade |
| collection | DOAJ |
| description | Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. Hyperammonemia is a critical complication, often resistant to conventional treatment. Here, we report the case of a 7-month-old patient with CACTD, initially diagnosed at 10 days old, who presented with persistent hyperammonemia despite optimized medical nutrition therapy and conventional nitrogen scavenging with sodium benzoate. When hyperammonemia persisted, carglumic acid was introduced, leading to a sustained decrease in ammonia levels and effective long-term control. Carglumic acid, typically indicated for organic acidemias, proved beneficial in this CACTD case. The administration of carglumic acid not only provided acute resolution but also stabilized ammonia levels over prolonged follow-up. This case highlights carglumic acid as a potential therapeutic option for managing hyperammonemia in CACTD, underscoring the need for further studies to confirm its efficacy in long-term management of hyperammonemia in fatty acid oxidation disorders. |
| format | Article |
| id | doaj-art-f59058e8bebe425b8476373432ed59bc |
| institution | Kabale University |
| issn | 2214-4269 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-f59058e8bebe425b8476373432ed59bc2025-02-09T05:00:27ZengElsevierMolecular Genetics and Metabolism Reports2214-42692025-03-0142101199Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case studyHanım Babazade0Tanyel Zubarioglu1Esma Uygur2Mehmet Şerif Cansever3Ertuğrul Kiykim4Çiğdem Aktuğlu Zeybek5İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, İstanbul, Turkeyİstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, İstanbul, Turkey; Corresponding author at: İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Kocamustafapasa Fatih, 34098 Istanbul, Turkey.İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, İstanbul, Turkeyİstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Research Laboratory of Metabolism, İstanbul, Turkey; İstanbul University-Cerrahpaşa, The Vocational School of Health Services, Department of Medical Documentation and Techniques, Division of Medical Laboratory Techniques, İstanbul,Turkeyİstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, İstanbul, Turkeyİstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, İstanbul, Turkey; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Research Laboratory of Metabolism, İstanbul, TurkeyCarnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. Hyperammonemia is a critical complication, often resistant to conventional treatment. Here, we report the case of a 7-month-old patient with CACTD, initially diagnosed at 10 days old, who presented with persistent hyperammonemia despite optimized medical nutrition therapy and conventional nitrogen scavenging with sodium benzoate. When hyperammonemia persisted, carglumic acid was introduced, leading to a sustained decrease in ammonia levels and effective long-term control. Carglumic acid, typically indicated for organic acidemias, proved beneficial in this CACTD case. The administration of carglumic acid not only provided acute resolution but also stabilized ammonia levels over prolonged follow-up. This case highlights carglumic acid as a potential therapeutic option for managing hyperammonemia in CACTD, underscoring the need for further studies to confirm its efficacy in long-term management of hyperammonemia in fatty acid oxidation disorders.http://www.sciencedirect.com/science/article/pii/S221442692500014XFatty acid oxidation disordersHyperammonemiaCarglumic acid |
| spellingShingle | Hanım Babazade Tanyel Zubarioglu Esma Uygur Mehmet Şerif Cansever Ertuğrul Kiykim Çiğdem Aktuğlu Zeybek Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study Molecular Genetics and Metabolism Reports Fatty acid oxidation disorders Hyperammonemia Carglumic acid |
| title | Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study |
| title_full | Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study |
| title_fullStr | Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study |
| title_full_unstemmed | Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study |
| title_short | Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study |
| title_sort | carglumic acid as a treatment for persistent hyperammonemia in carnitine acylcarnitine translocase deficiency a case study |
| topic | Fatty acid oxidation disorders Hyperammonemia Carglumic acid |
| url | http://www.sciencedirect.com/science/article/pii/S221442692500014X |
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