Fabry disease
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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 wall and septal hypertrophy
- Lymphedema
- Myocardial infarction
- Valvular disease (mitral)
- 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
Biology
Proteinuria
Alpha-galactosidase A deficiency in plasma, leukocytes, or fibroblasts
Increased level of globotriaosylceramide in plasma and urinary sediment
renal sinus cysts (parapelvic kidney cysts) (15327390)
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)