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Hypoketotic hypoglycemia in citrin deficiency: a case report
Yoichi Wada1, Natsuko Arai-Ichinoi2, Atsuo Kikuchi2
1Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai, Miyagi, 980-8574, Japan. wada@med.tohoku.ac.jp.
BMC Pediatrics
|September 23, 2020
Summary
Citrin deficiency (CD) can present with severe hypoglycemia and insufficient ketosis, suggesting partial fatty acid oxidation dysfunction. Early recognition is crucial for appropriate management, differentiating it from other hypoketotic hypoglycemia causes.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Citrin deficiency (CD) is an inherited metabolic disorder caused by SLC25A13 gene variants.
- Previous research noted ketosis in CD during euglycemia or mild hypoglycemia.
- The relationship between severe hypoglycemia, ketosis, and CD requires further investigation.
Observation:
- A 1-year-old boy experienced recurrent episodes of hypoglycemia.
- Fasting challenge revealed hypoketotic hypoglycemia, suggesting impaired beta-oxidation.
- Genetic testing confirmed Citrin deficiency.
Findings:
- The patient exhibited symptomatic hypoglycemia with relatively low ketone body levels.
- This presentation implies a potential partial disruption of beta-oxidation in CD.
- Treatment with a medium-chain triglyceride formula resolved the hypoglycemic episodes.
Implications:
- Clinicians should consider CD in patients with hypoglycemia and low ketone levels.
- Distinguishing CD from other hypoketotic hypoglycemia disorders is vital to avoid detrimental glucose administration.
- Further large-scale studies are needed to validate these findings in Citrin deficiency patients.
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