Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience.
OBJECTIVES
Accurate management of metabolic decompensation in maple syrup urine disease (MSUD) has a crucial role, as acute attacks can cause neurological sequels and can be life threatening. Here, we aimed to evaluate effect of sodium phenylbutyrate (NaPBA) in acute management of MSUD attacks.


METHODS
Episodes with an initial plasma leucine (Leu) level above 750 µmoL/L and that require hospitalization due to clinical findings of Leu neurotoxicity and/or feeding difficulties were included to the study. Patients who had no molecular diagnosis and a regular follow-up were excluded. Clinical findings, laboratory results and therapy responses were reviewed, retrospectively.


RESULTS
Ten patients who experienced 19 distinct episodes of MSUD attacks were enrolled. Initial median Leu level was 901.67 (range 756-1989.11) and 33.9 µmoL/L (range 7.91-347.3 µmoL/L) at the end of therapy. None of our patients underwent extracorporeal toxin removal during the course of attack. In patients with serial plasma quantitative amino acid sampling, mean Leu reduction rate was calculated to be 529.68 ± 250.08 µmoL/L/day at the 24th h of treatment and 318.72 ± 191.52 µmoL/L/day at the 48th h of treatment.


CONCLUSIONS
This study is the first original study that investigates the effect of NaPBA in management of acute attacks of MSUD patients from Turkey. We suggest that NaPBA treatment in MSUD attacks can ameliorate clinical and biochemical findings. This therapeutic option should be considered especially in smaller centers without the toxin removal chance and for patients who were not appropriate for extracorporeal toxin removal like hemodynamic instability.
['Zubarioglu|Tanyel|T|', 'Dede|Elif|E|', 'Cigdem|Humeyra|H|', 'Kiykim|Ertugrul|E|', 'Cansever|Mehmet S|MS|', 'Aktuglu-Zeybek|Cigdem|C|']
D000970:Antineoplastic Agents D002648:Child D002675:Child, Preschool D019468:Disease Management D005260:Female D005500:Follow-Up Studies D006801:Humans D007223:Infant D008297:Male D008375:Maple Syrup Urine Disease D010654:Phenylbutyrates D011379:Prognosis D012189:Retrospective Studies
sodium phenylbutyrate MSUD extracorporeal toxin removal CRRT emergency treatment