摘要：Abstract Background The effect of long-term N-carbamylglutamate (NCG) treatment on the rate and severity of decompensations due to propionic aciduria (PA) and methylmalonic aciduria (MMA) is unknown. This paper presents clinical experience from a single-centre cohort of patients with {PA} and {MMA} who received continuous long-term treatment with NCG. Methods The effect of oral {NCG} treatment (initial dose: 50 mg/kg/day) was investigated in patients with {PA} or {MMA} who were experiencing frequent progressive episodes of metabolic decompensation, who had pathological levels of ammonia, and who were referred to the Division of Metabolic Diseases, University Hospital of Padova between August 2014 and December 2015. Clinical and biochemical data, including the number of metabolic decompensations, lactic acid, uric acid and plasma ammonia levels, protein intake and body weight, were collected before and after the initiation of {NCG} treatment. Results Eight patients with {PA} (n = 4) and {MMA} (n = 4) aged 2–20 years were treated with {NCG} (50 mg/kg/day) for 7–16 months. Metabolic decompensation episodes decreased in number and severity, with three of the patients having no episodes (pre-treatment: 24 episodes; post-treatment: 9 episodes). After {NCG} treatment, all episodes were treated at home and none required hospitalisation, lactic acid values were 1.3–2.1 mmol/L and uric acid values were 0.21–0.36 mmol/L. Significant reductions in blood ammonia levels after {NCG} initiation were observed in five patients, whereas levels were reduced or maintained in the normal range in the remainder. Over the treatment period, patients had an increase in natural protein intake of 20–50% and gained 0–6.5 kg in bodyweight. Conclusion These observations suggest that, in addition to short-term benefits for the acute treatment of hyperammonaemia, {NCG} may be effective and well tolerated as a long-term treatment in patients with severe {PA} and MMA, and that further prospective studies are warranted.
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