Fabry disease


Also found in: Wikipedia.

Fa·bry dis·ease

(fah'brē), [MIM*301500]
disease due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (for example, globotriaosylceramide) in endothelial cells in blood vessel walls. Clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in the extremities, cornea verticillata, and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications; X-linked recessive inheritance caused by mutation of the α-galactosidase gene (GLA) on Xq.

Fabry disease

(fä′brē)
n.
An X-linked lysosomal storage disease marked by progressive symptoms including burning pain in the hands and feet, sweating, and purple skin lesions, with death resulting from renal, cardiac, or cerebrovascular complications.

Fa·bry dis·ease

(fah'brē di-zēz')
A disorder resulting from deficient α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (e.g., globotriaosylceramide) in endothelial cells in blood vessel walls; clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in extremities; cornea verticillata; and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications. An X-linked recessive inheritance that is caused by mutation of the α-galactosidase gene (GLA) on Xq.
Synonym(s): Anderson-Fabry disease, Ruiter-Pompen disease, Sweeley-Klionsky disease.

Fabry disease

See ANDERSON-FABRY DISEASE.

Fabry,

Johannes, German dermatologist, 1860-1930.
Anderson-Fabry disease - Synonym(s): Fabry disease
Fabry disease - an X-linked recessive disorder of glycosphingolipid metabolism. Synonym(s): Anderson-Fabry disease; diffuse angiokeratoma; glycolipid lipidosis
References in periodicals archive ?
Anderson- Fabry disease: Clinical manifestation and impact of disease in a cohort of 60 obligate carrier females.
Other myocardial diseases included dilated cardiomyopathy (51, 17.9%), Myocarditis (30, 10.5%), hypertension (24, 8.4%), amyloidosis (7, 2.5%), restricted cardiomyopathy (6, 2.1%), arrhythmogenic right ventricular cardiomyopathy (3, 1.1%), hyperthyroid heart disease (2, 0.7%), left ventricle non-compaction (1, 0.4%), fabry disease (1, 0.4%) and other uncatelogued cardiomyopathy (30, 10.5%).
Fabry disease: A study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations.
Other chapters address mechanisms of neuropathic pain, therapeutics, carpal tunnel syndrome, cervical radiculopathy, meralgia paresthetica, Lyme radiculopathy, neuralgic amyotrophy, herpes zoster infection, polyneuropathies, inherited amyloidosis, sarcoidosis, Fabry disease, proximal myotonic myopathy, complex regional pain syndrome, polymyalgia rheumatica, phantom pain, Brown-Sequard syndrome, syringomyelia, and headache disorders, and give information on the patient's history, clinical findings, investigations, diagnosis, and treatment.
Fabry disease is an X-linked hereditary disorder caused by a deficiency of the lysosomal enzyme [alpha]-galactosidase A.
Fabry disease is a genetic inborn error of metabolism in which the enzymatic activity of [alpha]-galactosidase ([alpha]-Gal), a hydrolytic enzyme present in lysosomes, is decreased due to a gene mutation; this results in the accumulation of glycolipids, mainly in the vascular endothelium.
The systemic form of angiokeratoma is associated with Fabry disease and fucosidosis.
Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase-Therapy in Patients with Fabry Disease. J Am Soc Nephrol 2007; 18(5):1547-1557.
Pharmacological chaperone therapy for Fabry disease Satoshi ISHII Communicated by Kunihiko SUZUKI, M.J.A.
Corneal and Conjunctival Manifestations in Fabry Disease: In Vivo Confocal Microscopy Study.

Full browser ?