Fabry disease

Definition: Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)

Fabry disease is an X-linked generalized progressive debilitating lysosomal storage disorder. The disease usually manifests in childhood, but the diagnosis is often made following the occurrence of late-stage complications such as progressive kidney failure.

Synopsis

 systemic anomalies

• retarded growth
• delayed puberty

 ocular anomalies

• Whorl-like corneal dystrophy in heterozygous females and hemizygous males

 cardiovascular anomalies

• coronaropathy
• cerebral vascular anomalies
• left ventricular hypertrophy
• lymphedema
• myocardial infarction
• valvular disease (mitral insuffisiency)
• congestive heart failure

 mild obstructive lung disease
 limited extension of terminal joints

 cutaneous anomalies

• hypohidrosis
• angiokeratoma

 glycosphingolipid deposition in all areas of the body
 lipid-laden macrophages in bone marrow and renal glomeruli
 renal sinus cysts (parapelvic kidney cysts) (15327390)

Biology

 Proteinuria
 Alpha-galactosidase A deficiency in plasma, leukocytes, or fibroblasts
 Increased level of globotriaosylceramide in plasma and urinary sediment .

Etiology

 Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)

See also

 Lipids

• sphingolipids (> sphingolipidoses)
  • glycosphingolipids (> glycosphingolipidoses)

 storage diseases

• lysosomal storage diseases
  • lipid strorage diseases