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Diagnosis and treatment of urea cycle disorder in J apan
Author(s) -
Nakamura Kimitoshi,
Kido Jun,
Mitsubuchi Hiroshi,
Endo Fumio
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12439
Subject(s) - hyperammonemia , ornithine transcarbamylase , urea cycle , carbamoyl phosphate synthetase , medicine , urea , ornithine transcarbamylase deficiency , argininosuccinate lyase , argininosuccinate synthase , excretion , endocrinology , ammonia , blood urea nitrogen , glutamine , citrullinemia , citrulline , biochemistry , creatinine , enzyme , arginine , biology , amino acid
Urea cycle disorder ( UCD ) is an inborn error of the metabolic pathway producing urea from ammonia, which occurs primarily in the liver. Decreased excretion of nitrogen in the urea cycle due to deficiency of carbamoyl phosphate synthase I ( CPSI ), ornithine transcarbamylase ( OTC ), argininosuccinate synthase ( ASS ), argininosuccinate lyase ( ASL ), and N ‐acetyl glutamate synthase ( NAGS ) causes hyperammonemia. We examined the clinical manifestations, treatment, and prognosis of 177 patients with UCD from J anuary 1999 to M arch 2009 in J apan. Compared with a previous study conducted in J apan, a larger number of patients survived without mental retardation, even when the peak blood ammonia was >360 μmol/L. In those with peak blood ammonia >360 μmol/L, an indicator of poor prognosis, the frequency of convulsions, mental retardation, brain abnormality on magnetic resonance imaging, hemodialysis, liver transplantation, and intake of non‐protein formulas was significantly higher than in those with peak blood ammonia <360 μmol/L. In this article, we have reported the current state of UCD to evaluate prognosis and its relationship with peak blood ammonia and hemodialysis.