Fabry disease in a patient with Turner syndrome

We report a unique case with co-occurrence
of Turner syndrome and Fabry disease (OMIM
#301500). The latter is a rare X-linked lysosomal storage
disease that is characterized by partial or complete deficiency
of a-galactosidase A (GLA; EC 3.2.1.22) following
mutations in the gene (GLA) localized at Xq22.1.
Accumulation of metabolic intermediates can occur in
many tissues and leads to severe morbidity, especially
due to renal failure, cardiac involvement and stroke.
It is well established that hemizygous male mutation
carriers with Fabry disease are generally more severely
affected than heterozygous female mutation carriers,
but disabling clinical features and disease progression
often occur in female Fabry patients as well. The majority
of this patient_s cells are of the 45,X type, making
her a hemizygous GLA mutation carrier displaying a
very severe Fabry disease phenotype.