HC has been involved in conception, design, analysis and interpretation of the data.ĮK has been involved in analysis and interpretation of the data. She has been involved in conception, design, analysis and interpretation of the data and also drafting the article.ĮD has been involved in conception, design, analysis and interpretation of the data. She accepts full responsibility for the work, had access to the data and controlled the decision to publish. TZ serves as the guarantor for the article. Research funding: There is no funding source.Īuthor contribution: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. 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. We suggest that NaPBA treatment in MSUD attacks can ameliorate clinical and biochemical findings. This study is the first original study that investigates the effect of NaPBA in management of acute attacks of MSUD patients from Turkey. 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. None of our patients underwent extracorporeal toxin removal during the course of attack. Ten patients who experienced 19 distinct episodes of MSUD attacks were enrolled. Clinical findings, laboratory results and therapy responses were reviewed, retrospectively. Patients who had no molecular diagnosis and a regular follow-up were excluded. MethodsĮpisodes 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. Here, we aimed to evaluate effect of sodium phenylbutyrate (NaPBA) in acute management of MSUD attacks. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.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. This handout is intended to provide health information so that you can be better informed. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. They can also help you figure out what to tell the doctors once you arrive to the emergency room. The doctor can talk with you if you are concerned about whether to bring your child to the emergency room. You can reach them by calling 61 (pager #26396).Īsk the operator to page the Genetics and Metabolism doctor on call. There is a Genetics and Metabolism doctor available 24/7. Urinalysis, for specific gravity and ketones.CBC differential and WEBC count (if indicated).Signs include lethargy, confusion, ataxia, nausea, headaches and abdominal pain. Check neurological status for increased intracranial pressure or leucine encephalopathy.
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