Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency
Background. Monocarboxylate transporter 1 (MCT1) deficiency (MIM #616095) is a relatively new identified cause of recurrent ketoacidosis triggered by fasting or infections. MCT1 was first described in 2014 by van Hasselt et al. to result from both homozygous and heterozygous mutations in the...
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Hacettepe University Institute of Child Health
2022-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/204 |
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| author | Ayşe Ergül Bozacı Aysel Tekmenuray Ünal |
| author_facet | Ayşe Ergül Bozacı Aysel Tekmenuray Ünal |
| author_sort | Ayşe Ergül Bozacı |
| collection | DOAJ |
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Background. Monocarboxylate transporter 1 (MCT1) deficiency (MIM #616095) is a relatively new identified cause of recurrent ketoacidosis triggered by fasting or infections. MCT1 was first described in 2014 by van Hasselt et al. to result from both homozygous and heterozygous mutations in the SLC16A1 gene. Patients with homozygous mutations are known to have a more severe phenotype with developmental delay and epilepsy. Thirteen patients with MCT1 deficiency with ketoacidosis have been reported in the literature to date.
Case. We describe a developmentally normal male patient with heterozygous missense variation in the SLC16A1 gene. Our patient who presented with cyclic vomiting and ketoacidosis episodes was found to have a heterozygous c.303T > G (p.Ile101Met) missense mutation.
Conclusions. It is crucial to take early preventive measures and to minimize the harmful effects of ketoacidotic episodes. MCT1 deficiency should be considered in the differential diagnosis of ketoacidosis in patients with normal SCOT and ACAT1 activities.
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| format | Article |
| id | doaj-art-606fb70d5c36408891bc412f3d2cf95d |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2022-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-606fb70d5c36408891bc412f3d2cf95d2025-08-20T02:01:46ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212022-08-0164410.24953/turkjped.2021.4915Rare cause of ketolysis: Monocarboxylate transporter 1 deficiencyAyşe Ergül Bozacı0Aysel Tekmenuray Ünal1Division of Pediatric Metabolism, Diyarbakir Childrens' Hospital, Diyarbakır, Turkey.Division of Medical Genetics, Diyarbakir Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey. Background. Monocarboxylate transporter 1 (MCT1) deficiency (MIM #616095) is a relatively new identified cause of recurrent ketoacidosis triggered by fasting or infections. MCT1 was first described in 2014 by van Hasselt et al. to result from both homozygous and heterozygous mutations in the SLC16A1 gene. Patients with homozygous mutations are known to have a more severe phenotype with developmental delay and epilepsy. Thirteen patients with MCT1 deficiency with ketoacidosis have been reported in the literature to date. Case. We describe a developmentally normal male patient with heterozygous missense variation in the SLC16A1 gene. Our patient who presented with cyclic vomiting and ketoacidosis episodes was found to have a heterozygous c.303T > G (p.Ile101Met) missense mutation. Conclusions. It is crucial to take early preventive measures and to minimize the harmful effects of ketoacidotic episodes. MCT1 deficiency should be considered in the differential diagnosis of ketoacidosis in patients with normal SCOT and ACAT1 activities. https://turkjpediatr.org/article/view/204MCT1ketoacidosisketone metabolismvomiting |
| spellingShingle | Ayşe Ergül Bozacı Aysel Tekmenuray Ünal Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency The Turkish Journal of Pediatrics MCT1 ketoacidosis ketone metabolism vomiting |
| title | Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency |
| title_full | Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency |
| title_fullStr | Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency |
| title_full_unstemmed | Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency |
| title_short | Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency |
| title_sort | rare cause of ketolysis monocarboxylate transporter 1 deficiency |
| topic | MCT1 ketoacidosis ketone metabolism vomiting |
| url | https://turkjpediatr.org/article/view/204 |
| work_keys_str_mv | AT ayseergulbozacı rarecauseofketolysismonocarboxylatetransporter1deficiency AT ayseltekmenurayunal rarecauseofketolysismonocarboxylatetransporter1deficiency |