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, 1.0 mg/kg, 15 mg/hr) and agalsidase alpha (Replagal, 0.2 mg/kg over 40 minu...
Management of Fabry disease is primarily outpatient. Complications may require inpatient treatment.
Monitoring by a medical specialist familiar w...
Fabry Community: http://www.fabrycommunity.com
Fabry Support & Information Group: http://www.fabry.org
National Fabry Disease Foundation: http://www.fabrydisease.org
National Insti...
E75.21 Fabry (-Anderson) disease
L74.4 Anhidrosis
272.7 Lipidoses
429.3 Cardiomegaly
356.9 Unspecified hereditary and idiopathic peripheral neuropathy
705.0 Anhidrosis
16652001 Fabry's ...
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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