Der Patient mit Ornithintranscarbamylasemangel

Schmidt, Joachim; Schroth, Michael; Irouschek, Andrea; Birkholz, Torsten; Kurzai, M.; Kröber, Stefan; Meisner, Michael; Albrecht, Susanne

doi:10.1007/s00101-005-0911-5

Cited by 16 publications

(3 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Despite the availability in France of the above-mentioned ammonium scavengers and a relatively consensual protocol for the treatment of acute episodes of hyperammonemia [ 22 ], there are no data specifically evaluating the efficacy of sodium benzoate for the treatment of hyperammonemia. The aim of this study was to evaluate the risk/benefit of providing i.v.…”

Section: Introductionmentioning

confidence: 99%

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

Husson

Schiff

Fouilhoux

et al. 2016

Orphanet J Rare Dis

View full text Add to dashboard Cite

BackgroundThe efficacy and safety of intra-venous (i.v.) sodium benzoate for treating acute episodes of hyperammonemia in urea cycle enzyme disorders (UCD) is well known. However, published data do not provide a clear picture of the benefits and risks of this drug. We report a retrospective multicentre study on the use of i.v. sodium benzoate in patients treated for UCD between 2000 and 2010 in the 6 French reference centres for metabolic diseases.ResultsSixty-one patients with UCDs - 22 ornithine transcarbamylase (20 confirmed, 2 suspected), 18 arginino-succinate synthetase, 15 carbamoyl phosphate synthetase, 3 arginosuccinate lyase, 1 arginase deficiency, 1 N-acetylglutamate synthetase, 1 HHH syndrome - required i.v. sodium benzoate over the course of 95 acute episodes (NH3 > 100 μmol/L or high-risk situations, i.e., gastroenteritis, surgery). Forty out of 61 patients experienced only one episode of decompensation (neonatal coma, 68.6 %). The most frequent cause of late decompensation was infection (55.5 %). A loading dose of i.v. sodium benzoate (median 250 mg/kg over 2 h) was administered for 41/95 acute episodes. The median maintenance dose was 246.1 mg/kg/day, administered via peripheral venous infusion in all cases except one via a central line. The total median duration of i.v. sodium benzoate treatment per episode was 2 days (0–13 days). The median durations of hospitalization in intensive care and metabolic units were 4 days (0–17 days) and 10 days (0–70 days), respectively. Eight patients died during the neonatal coma (n = 6) or surgery (n = 2). The median plasma ammonium level before treatment was 245.5 μmol/L (20.0–2274.0 μmol/L); it decreased to 40.0 μmol/L in patients who were alive (13.0–181.0 μmol/L) at the end of treatment with i.v. sodium benzoate. A decrease in ammonium level to ≤ 100 μmol/L was obtained in 92.8 % of episodes (64/69 of the episodes recorded for the 53 surviving patients). Five patients required another treatment for hyperammonemia (sodium phenylacetate + sodium benzoate, haemofiltration). Eighteen side effects were reported related to the i.v. infusion (local diffusion, oedema).ConclusionThis 10-year retrospective study shows that i.v. sodium benzoate associated with an emergency regimen is an effective and safe treatment for acute episodes of UCD.

show abstract

Section: Introductionmentioning

confidence: 99%

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

Husson

Schiff

Fouilhoux

et al. 2016

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Hierbei ist der OTC Mangel mit einer Häufigkeit von 1:14.000 am bedeutsamsten [4]. Zunehmend wer den auch Manifestationen im Jugend und Erwachsenenalter bekannt, die aufgrund der unspezifischen klinischen Sympto me, ausgelöst durch ein hyperammonä misches Hirnödem, häufig erst verspätet erkannt werden und dann zu fulminanten Verläufen mit Todesfällen führen können [15,20,23].…”

Section: Angeborene Harnstoffzyklusdefekteunclassified

“…Ein ähnlich gearteter Fall wie im ers ten Fallbeispiel wird von Schmidt et al [20] berichtet. Diese Patientin wies Am moniakspitzenspiegel von 1944 g/dl auf; hierunter war sie komatös, allerdings oh ne Krampfäquivalente.…”

Section: Untersuchungen Bei Notaufnahmeunclassified