Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families

• Published in: Prenatal diagnosis 2001-05, Vol.21 (5), p.354-358
• Main Authors: Salomäki, Pirjo, Aula, Nina, Juvonen, Vesa, Renlund, Martin, Aula, Pertti
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Biological and medical sciences; Carbohydrate Metabolism, Inborn Errors - diagnosis; Carbohydrate Metabolism, Inborn Errors - genetics; Carbohydrate Metabolism, Inborn Errors - metabolism; Chorionic Villi Sampling; Chromosome Mapping; DNA - analysis; DNA Mutational Analysis; Female; Finland; free sialic acid storage disease; Genetic Linkage; Gynecology. Andrology. Obstetrics; Haplotypes; Humans; Lysosomal Storage Diseases, Nervous System - diagnosis; Lysosomal Storage Diseases, Nervous System - genetics; Lysosomal Storage Diseases, Nervous System - metabolism; Male; Management. Prenatal diagnosis; Medical sciences; Microsatellite Repeats; Mutation, Missense; N-Acetylneuraminic Acid - genetics; N-Acetylneuraminic Acid - metabolism; Pedigree; Polymerase Chain Reaction; Pregnancy; Pregnancy. Fetus. Placenta; prenatal detection; Salla disease
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.68

Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult‐type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples. Three affected and 12 unaffected fetuses were identified. The first studies were based on the sialic acid assays alone, but the location of the gene enabled the use of genetic linkage analysis and, more recently, the identification of the SLC17A5 gene and disease‐causing mutations added yet another possibility for prenatal studies. A missense mutation 115C→T (R39C) is present in 95% of all Finnish SD alleles, providing an easy and reliable means of diagnostic studies. Both molecular and biochemical (sialic acid assay) studies can be used for prenatal diagnosis of free sialic acid storage diseases. Copyright © 2001 John Wiley & Sons, Ltd.