Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.

Autor: Alili JM; Pôle EPHP, AGEPS, AP-HP, Paris, France. jean-meidi.alili@aphp.fr.; Service Des Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015, Paris, France. jean-meidi.alili@aphp.fr., Berleur MP; Pôle EPHP, AGEPS, AP-HP, Paris, France., Husson MC; Pôle EPHP, AGEPS, AP-HP, Paris, France., Mention K; Metabolic Disease Reference Centre, Lille University Hospital, Lille, France.; G2M Network, MetabERN, Paris, France., Schiff M; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Arnoux JB; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Brassier A; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Guemman AS; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Grisel C; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Dubois S; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Abi-Wardé MT; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France., Broissand C; Deparment of Pharmacy, Necker's Children University Hospital, AP-HP, Paris, France., Servais A; Department of Nephrology, Necker's Children University Hospital, AP-HP, Paris, France., Dao M; Department of Nephrology, Necker's Children University Hospital, AP-HP, Paris, France., de Lonlay P; G2M Network, MetabERN, Paris, France.; Metabolic Disease Reference Centre, Necker's Children University Hospital, AP-HP, Paris, France.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 16; Vol. 17 (1), pp. 202. Date of Electronic Publication: 2022 May 16.
DOI: 10.1186/s13023-022-02353-2
Abstrakt: Background: Patients with maple syrup urine disease (MSUD) experiencing metabolic decompensations have traditionally been treated with branched-chain amino acid (BCAA)-free mixture via oral or nasogastric administration routes. In some patients, enteral administration is not possible, either because the patient presents with vomiting, coma, or refuses nasogastric administration, thus intravenous (IV) BCAA-free solution is an appropriate intervention for these challenging cases.
Aims: This study aimed to evaluate the effectiveness and safety of managing metabolic decompensations by administering an IV BCAA-free solution.
Methods: This is an observational prospective study of data from MSUD patients hospitalised for decompensation episodes between 2010 and 2016 at 6 centres for rare metabolic diseases in France.
Results: A total of 24 patients (16 males; 8 females) experiencing 126 MSUD metabolic decompensation episodes (39 in children; 87 in adults) were admitted to hospital. At presentation, mean leucine plasma concentration was ≥ 381 µmol/L in 113/126 (89.7%) episodes. Children were treated with continuous IV BCAA-free solution at doses of 0.8 to 2.0 g/kg/day, for 4.8 days and adults for 3.8 days at doses of 0.5 to 2.6 g/kg/day. In the efficacy set of 102 analysable episodes leucine concentrations were normalised (to below 381 µmol/L) in 82% (n = 18/22) of episodes in children and in 84% (n = 67/80) of episodes in adults. Mean time to leucine normalisation was 3.0 days. This was significantly (p < 0.001) shorter than the algorithmically predicted time to leucine normalisation with traditional BCAA-free mixture. Duration of hospitalisation was significantly longer for children than for adults (7.1 days in children vs 5.2 days in adults, p = 0.012). No treatment-related adverse events were reported in any patients on IV BCAA-free solution.
Conclusion: The IV BCAA-free solution is safe and effective in normalising leucine concentrations during MSUD decompensation episodes in both children and adults, offering a practical treatment alternative for those patients who cannot receive BCAA-free mixture via oral or nasogastric routes.
(© 2022. The Author(s).)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje