Citrulline for urea cycle disorders in Japan.

Abstract

BACKGROUND:

The amino acid l-citrulline is used as a therapeutic agent for urea cycle disorders (UCD) including ornithine transcarbamylase deficiency (OTCD), carbamoyl phosphate synthetase I deficiency (CPSD), and N-acetylglutamate synthase deficiency. There are few reports, however, on the use of l-citrulline in Japan and little consensus regarding the effects of l-citrulline.

METHODS:

We conducted a questionnaire survey of patients undergoing l-citrulline treatment for a UCD to evaluate the current status of this therapy. The survey included patient background, details of l-citrulline treatment, clinical examination data, treatment, frequency of vomiting, and liver transplantation.

RESULTS:

We retrospectively investigated 43 questionnaire respondents (OTCD, n = 33; CPSD, n = 10). The weight of male OTCD patients improved by +0.79 SD, and the ammonia level decreased by a mean of 44.3 μmol/L in all patients. The protein intake of all patients and of male OTCD patients increased by 0.14 g/kg/day and 0.17 g/kg/day, respectively.

CONCLUSIONS:

l-Citrulline effectively reduced ammonia level, increased protein intake, and improved weight gain in UCD patients. l-Citrulline should be considered a standard therapy in OTCD and CPSD patients.

• Authors: Kenichi Tanaka, Kimitoshi Nakamura, Shirou Matsumoto, Jun Kido, Hiroshi Mitsubuchi, Toshihiro Ohura, Fumio Endo
• Journal: Pediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 59 Issue 4 Pg. 422-426 (Apr 2017) ISSN: 1442-200X [Electronic] Australia
• PMID: 27613354 (Publication Type: Journal Article)
• Copyright: © 2016 Japan Pediatric Society.

Chemical References

• Dietary Proteins
• Citrulline

Topics

• Adolescent
• Child
• Child, Preschool
• Citrulline (therapeutic use)
• Diet
• Dietary Proteins
• Female
• Health Surveys
• Humans
• Infant
• Japan
• Male
• Retrospective Studies
• Treatment Outcome
• Urea Cycle Disorders, Inborn (drug therapy)
• Weight Gain