Citrulline for urea cycle disorders in Japan.
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.
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Kenichi
K
Tanaka
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Kimitoshi
K
Nakamura
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Shirou
S
Matsumoto
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Jun
J
Kido
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Hiroshi
H
Mitsubuchi
Department of Pediatrics, Sendai City Hospital, Sendai, Japan.
Toshihiro
T
Ohura
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Fumio
F
Endo
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002956:Citrulline / Q000627:therapeutic use*; D004032:Diet; D004044:Dietary Proteins; D005260:Female; D006306:Health Surveys; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D012189:Retrospective Studies; D016896:Treatment Outcome; D056806:Urea Cycle Disorders, Inborn / Q000188:drug therapy*; D015430:Weight Gain
D004044:Dietary Proteins; D002956:Citrulline
ammonia; carbamoyl phosphate synthetase I deficiency; citrulline; ornithine transcarbamylase deficiency; urea cycle disorder