Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience
-
Tanyel Zubarioglu
,
Elif Dede
Abstract
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.
Research funding: There is no funding source.
Author contribution: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
TZ serves as the guarantor for the article. She accepts full responsibility for the work, had access to the data and controlled the decision to publish. She has been involved in conception, design, analysis and interpretation of the data and also drafting the article.
ED has been involved in conception, design, analysis and interpretation of the data.
HC has been involved in conception, design, analysis and interpretation of the data.
EK has been involved in analysis and interpretation of the data.
MSC has been involved in analysis and interpretation of the data.
CAZ has been involved in conception, design, interpretation of the data and revising the article critically for important intellectual content.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
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Articles in the same Issue
- Frontmatter
- Review Articles
- Association between muscle strength and risk factors for metabolic syndrome in children and adolescents: a systematic review
- Adverse effects of metabolic disorders in childhood on adult reproductive function and fertility in the male
- Original Articles
- Female adolescents and young women previously treated for pediatric malignancies: assessment of ovarian reserve and gonadotoxicity risk stratification for early identification of patients at increased infertility risk
- Anthropometric indices and cardiometabolic risk factors in a Ghanaian adolescent population
- Effectiveness of basal LH in monitoring central precocious puberty treatment in girls
- Combination of sleep duration, TV time and body mass index is associated with cardiometabolic risk moderated by age in youth
- Serum level of NPTX1 is independent of serum MKRN3 in central precocious puberty
- Training using a simulation-based workshop reduces inaccuracies in estimations of testicular volume
- Longitudinal 15-year follow-up of women with former early puberty: abnormal metabolic profiles not associated with earlier age at onset of puberty, but associated with obesity
- Prenatal smoke exposure is associated with increased anogenital distance in female infants: a prospective case–control study
- Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
- Characterization and outcome of 11 children with non-diabetic ketoacidosis
- Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study
- The utility of 68Ga-DOTATATE PET/CT in localizing primary/metastatic pheochromocytoma and paraganglioma in children and adolescents – a single-center experience
- Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience
- Case Reports
- Delayed phenylketonuria diagnosis: a challenging case in child psychiatry
- Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene
- Differentiating syndrome of inappropriate ADH, reset osmostat, cerebral/renal salt wasting using fractional urate excretion
- Ectopic ACTH production by thymic and appendiceal neuroendocrine tumors – two case reports
- New onset diabetes with diabetic ketoacidosis in a child with multisystem inflammatory syndrome due to COVID-19
