Hypoketotic hypoglycemia in citrin deficiency: a case report

Hypoketotic hypoglycemia in citrin deficiency: a case report

Abstract Background Citrin deficiency (CD) is a recessive metabolic disease caused by biallelic pathogenic variants in SLC25A13. Although previous studies have reported ketosis in CD, it was observed at the time of euglycemia or mild hypoglycemia. Blood ketone levels concomitant with symptomatic or...

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Bibliographic Details
Main Authors: Yoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Osamu Sakamoto, Shigeo Kure
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Pediatrics
Subjects:
Citrin deficiency
Hypoketotic hypoglycemia
Medium-chain triglyceride
Starvation test
SLC25A13
Online Access:http://link.springer.com/article/10.1186/s12887-020-02349-6

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http://link.springer.com/article/10.1186/s12887-020-02349-6

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