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Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.

Abstract：

:Ornithine transcarbamylase deficiency is a very heterogeneous urea cycle disorder resulting in hyperammonemia with various presentations from the neonatal period through adulthood. We performed a retrospective study in nine patients (four male/five female, age at diagnosis ranging from 6 days to 14 years) to evaluate the safety and efficacy of sodium phenylbutyrate (Ammonaps) in long-term treatment. All patients were diagnosed by DNA mutational analysis and/or liver enzyme measurement. They had previously been treated with sodium benzoate (median dose 248 mg/kg/day; range 106-275) and low protein diet (median 0.84 g/kg/day) and were switched to sodium phenylbutyrate (median dose of 352 mg/kg/day) at 8.9 and 4.9 years of age (median) in males and females, respectively. We analyzed clinical and biochemical data and the median follow-up duration was 26 months. During that time, there were no hyperammonemic episodes requiring hospitalization. Median plasma ammonia and glutamine levels were 30 and 902 micromol/L, respectively. Total protein intake could be increased to 0.95 g/kg/day after 18 months. No side effects related to therapy were observed. Further prospective studies should be performed to define the optimal dosage of sodium phenylbutyrate and the requirements for protein diet at different ages.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Burlina AB,Ogier H,Korall H,Trefz FK

doi

10.1006/mgme.2001.3156

subject

Has Abstract

pub_date

2001-04-01 00:00:00

pages

351-5

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(01)93156-7

journal_volume

72

pub_type

杂志文章

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