Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report

Medicine · 9 authors, 3 centres

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TL;DR

A 2-month-old Chinese male infant with persistent neonatal jaundice and elevated transaminases was found to carry a heterozygous deletion of exon 3 of the SLC25A13 gene, diagnosed as neonatal intrahepatic cholestasis caused by citrin deficiency.

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This case report describes a 2-month-old male infant who presented with persistent skin yellowing since birth and elevated ALT and AST levels. Diagnostic workup excluded viral hepatitis, drug-induced liver damage, and other causes. Whole exome sequencing at 2 months and 13 days revealed a heterozygous deletion of exon 3 of the SLC25A13 gene, judged pathogenic per ACMG guidelines, confirming citrin deficiency (NICCD). Initial pharmacologic interventions (compound glycyrrhizin, glutathione) did not sustain ALT improvement. By 6 months of age, jaundice resolved and liver function normalized without specific treatment. The patient had growth retardation (length and weight at −2SD). This is the first reported case of citrin deficiency caused by this heterozygous exon deletion mutation.

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case_report

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pediatrics

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ORIGINAL PAPER

PMC10713093

Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report

Medicine

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ABSTRACT

Introduction: Citrin is a calcium-bound aspartate-glutamate carrier protein encoded by the gene SLC25A13, mutations of which can cause citrin deficiency, an autosomal recessive disorder. The manifestations of citrin deficiency include neonatal intrahepatic choledeposits caused by citrin deficiency (NICCD: OMIM#605814), intermediate growth disorders and dyslipidemia caused by citrin deficiency, and citrullinemia type II (OMIM#603471) in adults. NICCD is a classical metabolic disorder that causes cholestasis in newborns. Patient concern and clinical findings: Here, we present the case of a 2-month-old male patient treated in our hospital on March 20, 2023, due to “postnatal skin xanthochromia and transaminases higher than normal values”. Since birth, the child’s skin had yellowed all over the body, and his condition did not improve after multiple medical treatments. Diagnosis/Intervention/Outcomes: The child underwent full exome gene testing at the age of 2 months and 13 days, and the results indicated heterozygous deletion of exon 3 of the SLC25A13 gene, while genetic testing of the parents revealed no gene mutations. The variant was preliminarily judged as being pathogenic according to the ACMG guidelines, and the patient was diagnosed with “citrin deficiency”. Skin yellowing eventually subsided, and liver function returned to normal without special treatment. Conclusions: Here, we report a rare case of citrin deficiency caused by a heterozygous deletion of the SLC25A13 gene. This case increases the clinical phenotypic profile of NICCD, suggesting that clinicians must be vigilant regarding such genetic metabolic diseases in the clinic for early diagnosis and treatment. NICCD should always be considered in the differential diagnosis of neonatal cholestasis.

CITATION EXPORT

Jialing Liu, Shuangzhu Lin, Shihui Guan et al.. Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report. Medicine. (2023). https://doi.org/10.1097/MD.0000000000036293

AUTHORS

9 · 3 CENTRES

Jialing Liu, Shuangzhu Lin, Shihui Guan, Qiandui Chen, Xinyao Wang, Yufei He, Yangfan Qi, Jinhua Feng, Yushu Liu

a Liuhe County Central Hospital, Liuhe Tonghua, Jilin Province, China
b The Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin Province, China
c Changchun University of Chinese Medicine, Changchun, Jilin Province, China.