Fabry disease;
Anderson-Fabry disease

Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]

Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females.

Congenital disorder of metabolism

nt06014  Sphingolipid degradation

GLA; alpha-galactosidase [HSA:2717] [KO:K01189]

Agalsidase alfa [DR:D02784]
Agalsidase beta [DR:D03228]
Migalastat hydrochloride [DR:D05031] (GLA variant)

PMID:18708002

Heese BA

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PMID:18940466

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Lancet 372:1427-35 (2008)
DOI:10.1016/S0140-6736(08)61589-5

PMID:16854371

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Sphingolipid metabolism diseases.

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DOI:10.1016/j.bbamem.2006.05.027

PMID:12633142

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Insights into the diagnosis and treatment of lysosomal storage diseases.

Arch Neurol 60:322-8 (2003)
DOI:10.1001/archneur.60.3.322

PMID:19318041

Schiffmann R

Fabry disease.

Pharmacol Ther 122:65-77 (2009)
DOI:10.1016/j.pharmthera.2009.01.003

PMID:17279083

Moller AT, Jensen TS

Neurological manifestations in Fabry's disease.

Nat Clin Pract Neurol 3:95-106 (2007)
DOI:10.1038/ncpneuro0407