The authors present a @entity1 with @entity2314 that remained undiagnosed for several years. @entity2314 is a @entity74 related to changes on the X chromosome. Its complex clinical presentation and diverse symptomatology is caused by deficient activity of lysosomal hydrolase alpha-galactosidase enzyme. Defect in the basic alpha-galactosidase molecule implies genetic change, which can be a predisposing factor for the development of atypical and typical forms of this @entity74 . In the presented case, clinical manifestation and hemizygous symptomatology were the evidence of metabolic and genetic irregularity, typical clinical presentation of @entity2314 . Many authors report generalized @entity455 as a basic characteristic of @entity2314 and a causative factor of multiorgan changes. Some authors indicate that @entity1 with diagnosed asymmetric hypertrophy of the left ventricle have decreased alpha-galactosidase. @entity299 , @entity301 , and @entity741 are often present in cases of @entity2314 , frequently causing @entity204 in such @entity1 . Characteristic central nervous system symptoms with @entity809 and paresthesia were also present in our case. Cerebrovascular complications were caused by changes on small blood vessels. Clinical signs of @entity177 were nonspecific, and the diagnosis was based on extrarenal symptoms. Initial renal manifestations were insignificant as asymptomatic @entity644 and microhematuria, due to which our @entity1 was referred to further examination. The level of alpha-galactosidase was significantly decreased. The severity and progression of this disease depends on the level of alpha-galactosidase enzyme in serum and its catabolic effect. More recent studies have showed that deficient enzyme can be synthetic zed and, accordingly our @entity1 has been successfully enrolled in the replacement therapy program.

XXXX --a diagnostic and therapeutic problem.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'persons'] @entity644 :: ('MESH:D011507', 'Disease') :: ['proteinuria'] @entity455 :: ('MESH:D014652', 'Disease') :: ['vasculopathy'] @entity301 :: ('MESH:D003327', 'Disease') :: ['coronary disease'] @entity809 :: ('MESH:D010292', 'Disease') :: ['skin-burning sensation'] @entity177 :: ('MESH:D051437', 'Disease') :: ['renal failure'] @entity2314 :: ('MESH:D000795', 'Disease') :: ['Fabry disease', 'Fabry syndrome'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic disease'] @entity741 :: ('MESH:D017202', 'Disease') :: ['acute myocardial ischemia'] @entity299 :: ('MESH:D006331', 'Disease') :: ['Cardiac complications'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death']
@entity2314 :: (MESH:D000795,Disease) :: ['Fabry disease']
