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- Title
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.
- Authors
Tamamori, Akiko; Okano, Yoshiyuki; Ozaki, Hajime; Fujimoto, Akie; Kajiwara, Masue; Fukuda, Kazuyoshi; Kobayashi, Keiko; Saheki, Takeyori; Tagami, Yasuko; Yamano, Tsunekazu
- Abstract
Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Citrin, an aspartate glutamate carrier in mitochondria, is an essential component of the malate-aspartate NADH shuttle. Recently, citrin deficiency has been reported to manifest as neonatal intrahepatic cholestasis. We report here five cases with neonatal intrahepatic cholestasis caused by citrin deficiency. Genetic diagnosis revealed compound heterozygotes of 851de14/IVSll+lG→A in two patients, IVS 11 + 1G→A/E601 X, and IVS 11 + 1G→A/unknown in each one patient and homozygote for S225X in one patient. All cases revealed high levels of alpha-fetoprotein, which are not observed in CTLN2 patients. The condition was self-limiting and spontaneously disappeared after 5-7 months of age in four patients. However, one patient developed hepatic dysfunction from the age of 6 months and required a living-related liver transplantation at the age of 10 months. The patient showed complete recovery after transplantation, and now at the age of 3 years, shows normal growth and mental development. Conclusion: we report the first case of neonatal intrahepatic cholestasis caused by citrin deficiency with severe hepatic dysfunction requiring a living-related liver transplantation. Patients with this disorder should be followed up carefully, even during infancy.
- Subjects
CHOLESTASIS in children; PROTEIN deficiency; LIVER transplantation; NEONATAL diseases
- Publication
European Journal of Pediatrics, 2002, Vol 161, Issue 11, p609
- ISSN
0340-6199
- Publication type
Article
- DOI
10.1007/s00431-002-1045-2