An X-linked glycolipid storage disease caused by mutation in GLA gene causing a deficiency of the lysosomal enzyme α-galactosidase A
Also known as angiokeratoma corporis diffusum, cer...
Children <5 years typically present with painful burning sensation in extremities (acroparesthesias) or gastrointestinal dysfunction (abdominal pain, nausea/vomiting, bloating, alt...
First-line treatment consists of enzyme replacement therapy (ERT), with both agalsidase beta (Fabrazyme, 1 mg/kg, 15 mg/hr) and a...
Management of Fabry disease is primarily outpatient. Complications may require inpatient treatment.
At least annual assessment of renal function,...
Fabry Community: http://www.fabrycommunity.com
National Fabry Disease Foundation: http://www.fabrydisease.org
National Institute...
E75.21 Fabry (-Anderson) disease
L74.4 Anhidrosis
16652001 Fabry’s disease (disorder)
55827005 left ventricular hypertrophy (disorder)
302226006 peripheral nerve disease (disorder)
4500400...
Consider Fabry disease in young patients presenting with stroke, hypertrophic cardiomyopathy of unknown cause, CKD, heart disease, or unexplained pain.
Fabry disease is a complex multis...
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