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KMID : 0918520170170020069
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Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 2 p.69 ~ p.76
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A Case of Citrin Deficiency Presenting with Recurrent Hypoglycemia: Diagnosed by Targeted Exome Sequencing
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Kim Chi-Woo
Hwang Jeong-Yun
Yang A-Ram
Kim Jin-Sup
Lee Tae-Heon
Jang Ja-Hyun
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/
pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del (p.Met285Profs*2), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.
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KEYWORD
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Citrin deficiency, hypoglycemia, targeted exome sequencing, SLC25A13
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