However, unlike other X-linked diseases, this condition also creates significant medical problems for females carrying only 1 copy of the defective GLA gene.

However, a small number of females carrying only one copy of the mutated GLA gene never shows any symptoms of Fabry disease.

[citation needed] Mutations to the GLA gene encoding α-GAL may result in complete loss of function of the enzyme.

α-GAL is a lysosomal protein responsible for breaking down globotriaosylceramide, a fatty substance stored various types of cardiac and renal cells.

One suggested approach to solving this problem involves converting the paralogous enzyme α-NAGAL (NAGA) into one that has with α-GAL activity.

[14] The pharmaceutical company Shire manufactures agalsidase alfa (INN) under the brand name Replagal as a treatment for Fabry disease,[15] and was granted marketing approval in the EU in 2001.

[18] The pharmaceutical company Genzyme produces synthetic agalsidase beta (INN) under the brand name Fabrazyme for the treatment of Fabry disease.

[20] Fabry patients who display neurological symptoms cannot receive RERT because recombinant enzymes cannot normally pass the blood-brain barrier.