Trastorno del movimiento después de la encefalopatía hipoglucemiante en la deficiencia mitocondrial de 3-hidroxi-3-metilglutarilo-CoA sintasa-2 (mHS)
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Ver abstracta en PubMed
Resumen
Este resumen es generado por máquina.La deficiencia mitocondrial de 3-hidroxi-3-metilglutaril-coenzima A sintasa (mHS), un trastorno raro de la síntesis de cetonas, puede causar lesiones en los ganglios basales y trastornos del movimiento. Este caso destaca las nuevas variantes de HMGCS2 relacionadas con estas complicaciones neurológicas.
Área De La Ciencia
- La bioquímica
- La genética
- Neurología
Sus Antecedentes
- La deficiencia mitocondrial de 3-hidroxi-3-metilglutaril-coenzima A sintasa (mHS) es un error congénito muy raro en la síntesis de cuerpos cetónicos.
- Es el resultado de mutaciones bialélicas en el gen HMGCS2 y puede manifestarse con hipoglucemia hipoketótica, acidosis metabólica, encefalopatía y hepatomegalia.
Objetivo Del Estudio
- Notificar un caso de trastorno del movimiento después de una encefalopatía hipoglucémica en un paciente con deficiencia de MHS.
- Para identificar la base genética de la deficiencia de MHS en este paciente.
Principales Métodos
- Se realizó la secuenciación completa del exoma.
- Las variantes genéticas se analizaron y clasificaron de acuerdo con la patogenicidad.
Principales Resultados
- El paciente presentaba un trastorno del movimiento secundario a una encefalopatía hipoglucémica que afectaba a los ganglios basales.
- La secuenciación del exoma reveló nuevas variantes heterocigotas compuestas en HMGCS2: una deleción parcial del gen (patógena) y una variante c.704T>A (p.M235K) (probablemente patógena).
Conclusiones
- La deficiencia de 3-hidroxi-3-metilglutaril-coenzima A mitocondrial puede conducir a una lesión de los ganglios basales.
- Esta lesión puede manifestarse como un trastorno del movimiento, ampliando el espectro clínico conocido de la deficiencia de MHS.
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