Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

Yıldız, Yılmaz; Yildiz, Leman Akcan; Dursun, Ali; Tokatlı, Ayşegül; Coşkun, Turgay; Tekşam, Özlem; Sivri, Hatice Serap

doi:10.1007/s00431-020-03602-x

Cited by 5 publications

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“…Triggering factors vary and may include extraneous events such as infection, exercise, trauma or surgery [ 1 , 5 ]. The only marker for metabolic decompensation is the plasma leucine level although level of blood ketones, uric acid and anion gap have potential as additional indicators [ 9 ]. Poor feeding and malaise forewarn the onset of neurological symptoms [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

“…The only marker for metabolic decompensation is the plasma leucine level although level of blood ketones, uric acid and anion gap have potential as additional indicators [ 9 ]. Poor feeding and malaise forewarn the onset of neurological symptoms [ 9 ]. Metabolic decompensations have also been reported in MSUD patients post-liver transplantation who are no longer required to follow a strict restrictive diet [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

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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

Alili

Berleur

Husson

et al. 2022

Orphanet J Rare Dis

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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.

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Section: Introductionmentioning

confidence: 99%