Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: Case reports from 16 patients

Yusaku Tazawa, Keiko Kobayashi, Daiki Abukawa, Ikuo Nagata, Shunichi Maisawa, Ryo Sumazaki, Toshiyuki Iizuka, Yoshito Hosoda, Manabu Okamoto, Jun Murakami, Shunsaku Kaji, Ayako Tabata, Yao Bang Lu, Osamu Sakamoto, Akira Matsui, Susumu Kanzaki, Goro Takada, Takeyori Saheki, Kazuie Iinuma, Toshihiro Ohura

Research output: Contribution to journalArticlepeer-review

46 Citations (Scopus)

Abstract

A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin K-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future.

Original languageEnglish
Pages (from-to)213-219
Number of pages7
JournalMolecular Genetics and Metabolism
Volume83
Issue number3
DOIs
Publication statusPublished - 2004 Nov 1

Keywords

  • Citrin deficiency
  • Citrullinemia
  • Fatty liver
  • Neonatal intrahepatic cholestasis
  • Newborn screening

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Fingerprint Dive into the research topics of 'Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: Case reports from 16 patients'. Together they form a unique fingerprint.

Cite this