GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Gastrointestinal symptom ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom 		0.010 GeneticVariation phenotype BEFREE In addition to symptomatic treatments, disease-specific enzyme replacement therapy with recombinant human alpha-galactosidase A enzyme or chaperone therapy (migalastat) in patients with amenable mutations can improve the disease, including gastrointestinal symptoms, and should be initiated as early as possible after Fabry disease has been confirmed; starting enzyme replacement therapy at as young an age as possible after diagnosis improves long-term clinical outcomes. 29602572 2018