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Hiperglucinemia no cetósica en el centro y los Apalaches de Kentucky
Shane Reeves1, Austin Wahle2, Larry B Goldstein3
1Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
Journal of child neurology
|January 6, 2026
Resumen
La hiperglucinemia no cetósica (HNC), un trastorno genético raro, muestra una mayor incidencia en Kentucky que las estimaciones mundiales. La investigación identificó variantes genéticas locales, enfatizando la necesidad de una mayor concienciación de los médicos y estrategias de cribado regionales.
Área de la Ciencia:
- Genética
- Trastornos metabólicos
- Epidemiología
Sus antecedentes:
- La hiperglucinemia no cetósica (HNC) es un trastorno metabólico genético raro.
- La incidencia mundial oscila entre 0,4 y 1,3 por cada 100.000 nacidos vivos, con variaciones regionales conocidas.
Objetivo del estudio:
- Estimar la incidencia regional al nacer de HNC en el centro y los Apalaches de Kentucky.
- Describir las características clínicas y genéticas de los pacientes con HNC en esta región.
Principales métodos:
- Revisión retrospectiva de pacientes que cumplen los criterios diagnósticos de HNC.
- Cálculo de la incidencia al nacer utilizando datos de nacimientos regionales.
- Análisis genético de pacientes para identificar variantes causales.
Principales resultados:
- Se identificaron quince pacientes con HNC; 13 nacieron en Kentucky.
- La incidencia estimada de HNC al nacer en la región es de 2,53 por cada 100.000 nacidos vivos, superior a las tasas mundiales.
- Las variantes del gen GLDC, incluida la mutación específica c.1166C>T (p.A389V), fueron prevalentes en la población estudiada.
Conclusiones:
- La incidencia de HNC es elevada en el centro y los Apalaches de Kentucky en comparación con las estimaciones mundiales.
- Una variante específica del gen GLDC (p.A389V) muestra un enriquecimiento local.
- Los hallazgos subrayan la necesidad de una mayor concienciación de los médicos, investigación específica y protocolos regionales informados de cribado y manejo para la HNC.
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