Hypoketotic hypoglycemia in citrin deficiency: a case report
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CASE REPORT
Open Access
Hypoketotic hypoglycemia in citrin deficiency: a case report Yoichi Wada1* , Natsuko Arai-Ichinoi1, Atsuo Kikuchi1, Osamu Sakamoto1 and Shigeo Kure1,2
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 severe hypoglycemia in CD have not been a topic of focus despite its importance in identifying the etiology of hypoglycemia and assessing the ability of fatty acid utilization. Herein, we describe a patient with CD who had repeated episodes of hypoglycemia with insufficient ketosis. Case presentation: A 1-year-old boy with repetitive hypoglycemia was referred to us to investigate its etiology. The fasting load for 13 h led to hypoketotic hypoglycemia, indicating the possibility of partial β-oxidation dysfunction. A genetic test led to the diagnosis of CD. The hypoglycemic episodes disappeared after switching to a medium-chain triglyceride-containing formula. Conclusions: This case report suggests that symptomatic or severe hypoglycemia in patients with CD could be associated with relatively low levels of ketone bodies, implying that β-oxidation in these patients might possibly be partially disrupted. When encountering a patient with hypoglycemia, clinicians should check blood ketone levels and bear in mind the possibility of CD because excessive intravenous administration of glucose can cause decompensated symptoms in patients with CD as opposed to other disorders presenting with hypoketotic hypoglycemia, such as fatty acid oxidation disorders. Further studies in a large-scale cohort are warranted to confirm our speculation. Keywords: Citrin deficiency, Hypoketotic hypoglycemia, Medium-chain triglyceride, Starvation test, SLC25A13
Background Citrin deficiency (CD) is caused by biallelic pathogenic variants in SLC25A13 (MIM 603859) that encodes citrin, a mitochondrial membrane protein that is mainly expressed in the liver [1, 2]. Citrin protein exchanges aspartic acid with glutamic acid between the mitochondria and cytosol to maintain NADH and NAD+ balance [3]. The NADH/NAD+ ratios increase in the cytosol in patients with CD [4], resulting in NADH/NAD+ imbalance after glycolysis. Individuals with CD have unique preferences for * Correspondence: [email protected] 1 Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai, Miyagi 980-8574, Japan Full list of author information is available at the end of the article
low-carbohydrate and high-fat foods, which are probably associated with energy production balance [5]. CD often markedly causes hypoglycemia during childhood; thus, physicians should consider the possibility of CD in such children. The assessment of ketone body levels during hypoglycemia is crucial for differential diagnosis [6]. A previous study diagnosed this as ketosis based on the results
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