Enfermedad de Fabry

Las personas que padecen la enfermedad de Fabry tienen deficiencia o ausencia total congénita de alfa-galactosidasa A. Como resultado, una sustancia grasa (glucolípido) que de otro modo sería descompuesta por esta enzima, se acumula en los lisosomas de las células. El gen responsable de la enfermedad de Fabry (GAL) se encuentra en el cromosoma X, por lo que la enfermedad se transmite por el cromosoma X afectado del padre o de la madre.

Malaltia de Fabry Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 31.01.2022, 13:04
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