Fabry disease.

[fabry disease]

Fabry disease (FD ) is an X-linked disorder caused by deficiency of the enzyme alpha-galactosidase A , required for the degradation of globotriaosylceramide . Accumulation of substrate occurs in multiple cell types resulting in a multi-system disorder , affecting both males and females . Clinical features include neuropathic pain and angiokeratoma , with subsequent development of proteinuria , renal failure , left ventricular hypertrophy , arrhythmias and stroke . Beyond palliative therapies for organ involvement and pain control , enzyme replacement therapy directed at the underlying metabolic defect became available in 2001 -2003 . Knowledge of the pathophysiology and clinical features of FD is vital for assessing the rationale and evidence of efficacy of therapies for FD and their limitations . Whilst ERT improves many of the symptoms of FD , its effect on the natural history of the disorder has yet to be fully demonstrated . Improved understanding of the appropriate use of adjunctive therapies and the development of new treatment strategies , including pharmacologic chaperone therapy and gene therapy , coupled with long term clinical outcome data on the effects of ERT are all key components of optimising treatment for FD .

Diseases
Validation

Diseases presenting "long term" symptom

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

canavan disease

child syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

fabry disease

hirschsprung disease

hydrocephalus with stenosis of the aqueduct of sylvius

kindler syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

oculocutaneous albinism

oligodontia

werner syndrome

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