Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient

✍ Scribed by Zammarchi, Enrico; Donati, Maria Alice; Morrone, Amelia; Donzelli, Gian Paolo; Zhou, Xiao Yan; D'Azzo, Alessandra

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 631 KB
• Volume: 64
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960823)64:3<453::aid-ajmg2>3.0.co;2-q

✦ Synopsis

Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonia, massive edema, a flattened coarse facies, telangiectasias, and hepatosplenomegaly, but no dysostosis multiplex. The patient died 72 days postpartum. Excessive sialyloligosaccharides in urine, as well as vacuolation of lymphocytes and eosinophilic granulocytes in peripheral blood, were indicative of a lysosomal storage disease. In the patient's fibroblasts, both a-neuraminidase and pgalactosidase activities were severely reduced, and cathepsin A activity was <1% of control levels, confirming the biochemical diagnosis of galactosialidosis. However, in contrast to previously reported earlyinfantile cases, a normal amount of protective proteidcathepsin A mRNA was detected on Northern blots. This mutant transcript was translated into a precursor protein that was not processed into the mature enzyme and lacked both protective and catalytic activities.