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Nuevas variantes bialélicas en el gen DLD causan una neuropatía sensorial reversible

Lu Wang¹, Ying Xiong^1,2, Kaiyan Jiang¹

¹Department of Neurology and Rare Disease Center, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.

Clinical genetics

|September 1, 2025

Resumen

La deficiencia de dihidrolipoamida deshidrogenasa (DLDD) puede causar neuropatía sensorial reversible, un síntoma no relacionado anteriormente. La terapia dietética temprana mejoró los síntomas en un paciente con este raro trastorno genético.

Área de la Ciencia:

La bioquímica
La genética
Neurología

Sus antecedentes:

La deficiencia de dihidrolipoamida deshidrogenasa (DLDD) es un trastorno metabólico autosómico recesivo poco frecuente.
DLDD afecta típicamente el hígado, el cerebro y los músculos, con neuropatía periférica no asociada previamente.
La acumulación de lípidos y el desequilibrio metabólico están implicados en la patogénesis de la DLDD.

Objetivo del estudio:

Para reportar un nuevo caso de DLDD con neuropatía sensorial.
Investigar las bases genéticas y moleculares de la neuropatía en DLDD.
Evaluar la eficacia de la terapia dirigida para la neuropatía asociada a la DLDD.

Principales métodos:

Evaluación clínica, electrofisiología y biopsia del nervio.
Análisis genético de las variantes de DLD y Western blotting para la proteína DLD.
Tratamiento con una fórmula libre de BCAA, metilcobalamina y tiamina.

Principales resultados:

Una mujer de 20 años presentó disfunción hepática y neuropatía axonal sensorial grave con acumulación de lípidos.
Se identificaron variantes heterocigotas compuestas de DLD (c.745G>T, p.G249C; c.1344_1347del, p.D448Efs*16) con una reducción de la proteína DLD.
El tratamiento dio lugar a la completa desaparición del vómito y a una mejora significativa de los síntomas neuropáticos.

Conclusiones:

Este es el primer informe que vincula la DLDD con una neuropatía sensorial reversible, ampliando el espectro fenotípico de la enfermedad.
La desregulación lipídica y el desequilibrio metabólico juegan un papel en la participación de los nervios periféricos en el DLDD.
La terapia dietética dirigida temprana es crucial para las presentaciones atípicas de DLDD.

Palabras clave:

Aminoácidos de cadena ramificada Deficiencia de dihidrolipoamida deshidrogenasa enfermedades del sistema nervioso periférico neuropatía sensorial

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