Alpha-neurominidase deficiency syndrome (CROSBI ID 525543)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Sepčić, Juraj ; Milohanović, Severin ; Marković, Dubravko ; Rizzuto Nicolo
engleski
Alpha-neurominidase deficiency syndrome
Clinical and biologic characteristics of a rare congenital lysosomal disease - sialidosis, caused by the enzyme alpha-neuraminidase deficiency, important in glycolipid and glycoprotein catabolism, have been reported. Two young female patients, nieces, with cherry-red spot changes on the retina, progressive myoclonic epilepsy and preserved intelligence where found in the autochthonous family from Istria, Croatia. One of them was born in consanguineous marriage. This patient developed hearing handicap, enlarged liver and cystic changes on the right femur epiphysis. Pathohistologic treatment of the skin, conjunctiva, rectal mucous membrane, liver, muscles, and peripheral nerve proved the existence of thesaurismosis. Complete alpha-(2-6) neuraminidase deficiency with fetuin as a substrate was found in the skin fibroblast culture in both patients. The activity of other lysosomal enzymes and beta-galactosidase was in the range of normal values. Increased sialyl-oligosaccharide secretion was proved in both female patients and their seven relatives, using a method of thin film chromatography of urine. Less quantities of sialyl-oligosaccharide were found in the urine of her female relative who developed nephropathy with terminal renal insufficiency, bath without neurologic disorders. Brother and sister of this female patient expired from the identical disease. Typical phenomenom of cherry-red spot – myoclonus syndrome (sialidosis Type I) in one female patient, presence of the disease variation in the other one, and the possible nephrosialidosis in three patients from the same family suggested that alpha-neuraminidase deficiency could be expressed by various clinical entities.
Alpha-neurominidase; deficiency syndrome
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
209-x.
1988.
objavljeno
Podaci o matičnoj publikaciji
Abstracts. Third European Meeting of Neuropathology. Clinical Neuropathology Vol 7(4)
Schlote W, Vogel F.S.
München : Deisenhofen:
Podaci o skupu
Third European Meeting of Neuropathology
predavanje
27.09.1988-29.09.1988
Verona, Italija