mucosulfatidosis

mucosulfatidosis: deficiencia de múltiples sulfatasas. Una enfermedad del almacenamiento de los lisosomas, de carácter autosómico recesivo, en la que la deficiencia de al menos 9 sulfatasas lisosomales y microsomales ocasionan la acumulación de glucolípidos, mucopolisacáridos y esteroides. La enfermedad se presenta como una leucodistrofia metacromática con un rápido deterioro neurológico [ICD-10: E75.2]

Diccionario médico. 2013.

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