Malaltia de Fabry

Les persones que pateixen la malaltia de Fabry tenen deficiència o absència total congènita d'alfa- galactosidasa A. Com a resultat, una substància grassa (glicolípid) que d'una altra manera seria descomposta per aquest enzim, s'acumula en els lisosomes de les cèl·lules. El gen responsable de la malaltia de Fabry (GAL) es troba al cromosoma X, de manera que la malaltia es transmet pel cromosoma X afectat del pare o de la mare.

Malaltia de Fabry Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 13.06.2022, 13:00
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