Oligosaccharidoses and Sialic Acid Disorders

摘要: Oligosaccharidosis comprises a group of disorders which show glycoprotein excretion in urine and diminished activity lysosomal enzymes that are involved the degradation sugar side chains. Among those glycosylasparaginase deficiency (aspartylglucosaminuria), α-l-fucosidase (fucosidosis), α- β-mannosidase (α- β-mannosidosis), α-N-acetylgalactosaminidase (Schindler Kanzaki disease), neuraminidase (sialidosis). In contrast to latter, where sialic acid containing glycosides is impaired, Salla disease results from defect sialin, membrane transporter protein. Consequently, stored lysosomes. The diseases rare present wide phenotypic spectrum. Detection oligosaccharides enzyme measurements leukocytes or fibroblasts usually diagnostic. Free has be assessed by HPLC. For final confirmation, molecular genetic test should carried out. To date mainly palliative therapies can provided.