Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fabry's disease is a rare familial disorder of glycolipid metabolism which is caused by a deficiency of a lysosomal enzyme alpha-galactosidase. A Finnish family is described in which cornea verticillata was found in the father and 2 daughters. In all cases, there were symptoms suggesting Fabry's disease: febrile episodes the origin of which was not clear, limb pains and, in the case of the father, 20 years of proteinuria with elevated ESR, and hemiplegia and aphasia following a cerebral thrombosis at the age of 43. The diagnosis was confirmed by demonstration of an alpha-galactosidase deficit in the serum and urine of all patients. Deficiency of this enzyme leads to abnormally high urinary tri- and dihexosyl ceramide levels, and this was observed in the father and the elder daughter. At the age of 12, the daughter had loss of vision in her right eye as a result of occlusion of the central retinal artery. Electron microscopic (EM) examination of the father's dermal angioma suggested Fabry's disease. Computerized cranial tomography of the father revealed not only the cerebrovascular condition but also a disease affecting the white matter of the brain.
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PMID:Fabry's disease and cornea verticillata. A report of 3 cases. 679 29

Fabry's disease is a genetically inherited error of glycosphingolipid metabolism that results from the defective activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA). The enzymatic defect, caused by an X-linked recessive genes, leads to progressive deposition of neutral glycosphingolipids (predominantly globotriaosylceramide), with terminal alpha-galactosyl moieties, in most visceral tissues and fluids of the body. Cerebrovascular manifestations result from multifocal small-vessel involvement and may include thromboses, basilar arterial ischaemia and aneurysm, seizures, paroxystic hemiplegia or hemianaesthesia, vestibular disorders and frank cerebral haemorrhage. Severe neurological signs may be present without evidence of major thrombosis and are presumably due to multifocal small-vessel occlusive disease. Vascular ischaemia and lipid deposition in peripheral nerves may cause conduction abnormalities (slowed conduction velocities and distal latency). Sensory neurons in spinal ganglia and small myelinated and unmyelinated fibers are affected preferentially.
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PMID:Fabry's disease as a differential diagnosis of MS. 1642 Jul 82