Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
J Pediatr
; 170: 234-9, 2016 Mar.
Article
em En
| MEDLINE
| ID: mdl-26749113
ABSTRACT
OBJECTIVE:
To evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with the attenuated form of nonketotic hyperglycinemia. STUDYDESIGN:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Desenvolvimento Infantil
/
Antagonistas de Aminoácidos Excitatórios
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Benzoato de Sódio
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Hiperglicinemia não Cetótica
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Irmãos
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Dextrometorfano
/
Tempo para o Tratamento
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
País como assunto:
America do norte
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article