Résumé
Objective To evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with the attenuated form of nonketotic hyperglycinemia. Study design Families were recruited with 2 siblings both affected with attenuated nonketotic hyperglycinemia. Genetic mutations were expressed to identify residual activity. The outcome on developmental progress and seizures was compared between the first child diagnosed and treated late with the second child diagnosed at birth and treated aggressively from the newborn period using dextromethorphan and benzoate at dosing sufficient to normalize plasma glycine levels. Both siblings were evaluated with similar standardized neurodevelopmental measures. Results In each sibling set, the second sibling treated from the neonatal period achieved earlier and more developmental milestones, and had a higher developmental quotient. In 3 of the 4 sibling pairs, the younger sibling had no seizures whereas the first child had a seizure disorder. The adaptive behavior subdomains of socialization and daily living skills improved more than motor skills and communication. Conclusions Early treatment with dextromethorphan and sodium benzoate sufficient to normalize plasma glycine levels is effective at improving outcome if used in children with attenuated disease with mutations providing residual activity and when started from the neonatal period.
Langue d'origine | English |
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Pages (de-à) | 234-239 |
Nombre de pages | 6 |
Journal | Journal of Pediatrics |
Volume | 170 |
DOI | |
Statut de publication | Published - mars 1 2016 |
Note bibliographique
Funding Information:Supported by the Children's Clinical Research Organization at Children's Hospital Colorado and donations from NKH Crusaders Fund , Hope for NKH Fund , CU Nonketotic Hyperglycinemia Fund , Joseph's Goal Fund , Brodyn's Friends Fund , Smiles for Miles NKH Research Fund , Lucy's BEElievers Fund , Madi's Mission to Find a Cure for NKH Fund , and Les Petits Bourdons . The authors declare no conflicts of interest.
Publisher Copyright:
© 2016 The Authors.
ASJC Scopus Subject Areas
- Pediatrics, Perinatology, and Child Health
PubMed: MeSH publication types
- Journal Article
- Research Support, Non-U.S. Gov't