Aciduria glutárica tipo I: reporte de un caso con diagnóstico tardío
Resumen
ANTECEDENTES: La aciduria glutárica tipo I es un error innato del metabolismo ocasionado por variantes en GCDH que dan origen a una deficiencia de la enzima glutaril-CoA deshidrogenasa que, a su vez, produce acumulación de metabolitos neurotóxicos y un cuadro clínico caracterizado por lesión estriatal y trastornos del movimiento (distonía, coreoatetosis).
CASO CLÍNICO: Paciente de tres años de edad, previamente asintomático hasta el inicio de una crisis encefalopática a los 10 meses, posteriormente con regresión de hitos del desarrollo, hipotonía central y movimientos involuntarios. Con el antecedente de laringomalacia, orzuelos de repetición, tos productiva crónica, alteración en el patrón de evacuaciones, hiperhidrosis generalizada y múltiples hospitalizaciones por infecciones respiratorias. La resonancia magnética cerebral reportó aumento del espacio subaracnoideo frontotemporal bilateral y de las cisuras de Silvio, globo pálido, putamen y caudado con atrofia bilateral, hiperintensos en T2/FLAIR y con restricción a la difusión. El análisis de los ácidos orgánicos demostró elevación del ácido glutárico y la secuenciación de GCDH reportó dos variantes patogénicas: p.Arg402Trp y p.Thr429Met.
CONCLUSIONES: Se reporta un caso de aciduria glutárica tipo I con diagnóstico tardío y dos variantes patogénicas en GCDH no comunicadas previamente en población mexicana. El tratamiento oportuno de la aciduria glutárica tipo I cambia radicalmente el pronóstico; sin embargo, depende de métodos de cribado para el diagnóstico temprano, que no se encuentran disponibles en todas las poblaciones.
Citas
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