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4 results on '"Carbohydrate Metabolism, Inborn Errors diagnosis"'

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

Author

Salomäki P, Aula N, Juvonen V, Renlund M, and Aula P

Subjects
Adult, Alleles, Carbohydrate Metabolism, Inborn Errors genetics, Carbohydrate Metabolism, Inborn Errors metabolism, Chorionic Villi Sampling, Chromosome Mapping, DNA analysis, DNA Mutational Analysis, Female, Finland, Genetic Linkage, Haplotypes, Humans, Lysosomal Storage Diseases, Nervous System genetics, Lysosomal Storage Diseases, Nervous System metabolism, Male, Microsatellite Repeats, Mutation, Missense, N-Acetylneuraminic Acid metabolism, Pedigree, Polymerase Chain Reaction, Pregnancy, Carbohydrate Metabolism, Inborn Errors diagnosis, Lysosomal Storage Diseases, Nervous System diagnosis, N-Acetylneuraminic Acid genetics
Abstract

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.)

Published
2001
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2. Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children.

Author

Ylitalo V, Hagberg B, Rapola J, Månsson JE, Svennerholm L, Sanner G, and Tonnby B

Subjects
Carbohydrate Metabolism, Inborn Errors enzymology, Female, Finland, Follow-Up Studies, Humans, Infant, Lysosomes enzymology, Lysosomes ultrastructure, Male, Microscopy, Electron, Skin enzymology, Skin innervation, Skin ultrastructure, Sweden ethnology, Carbohydrate Metabolism, Inborn Errors diagnosis, Neuraminidase metabolism, Psychomotor Disorders diagnosis
Abstract

The case reports of two Swedish girls with initially pseudostationary clinical pictures, one simulating ataxic and the other dyskinetic cerebral palsy, are presented. It was eventually revealed that they had a slowly progressive encephalopathy with pronounced gross motor disability and signs of severe dyskinesia, but only mild intellectual delay. Electron microscopy of skin biopsies showed a picture identical to that in Salla disease. They had a moderately increased 5-10 fold urinary free sialic acid excretion, increased sialidase activity in lymphocytes but normal activity in cultured fibroblasts. These two Swedish cases represent variants of Salla disease, a group of conditions with probable genetic heterogeneity.

Published
1986
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3. Clinical and laboratory diagnosis of Salla disease in infancy and childhood.

Author

Renlund M

Subjects
Age Factors, Carbohydrate Metabolism, Inborn Errors physiopathology, Carbohydrate Metabolism, Inborn Errors urine, Child, Child, Preschool, Chromatography, Thin Layer, Female, Finland, Humans, Hydrolases metabolism, Infant, Lysosomes enzymology, Male, Sialic Acids urine, Skin ultrastructure, Carbohydrate Metabolism, Inborn Errors diagnosis, Sialic Acids metabolism
Abstract

Salla disease is an autosomal recessive lysosomal storage disorder; increased amounts of free sialic acid (N-acetylneuraminic acid) are found in urine and tissues. The disease causes severe psychomotor retardation, with onset by 1 year of age, but the patients have an apparently normal life-span. This paper describes the clinical features of Salla disease in six infants and young children and provides the background for laboratory diagnosis by thin-layer chromatography or spectrophotometric determination of sialic acid in urine.

Published
1984
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4. Aspartylglycosaminuria. Analysis of thirty-four patients.

Author

Autio S

Subjects
Adolescent, Adult, Birth Order, Birth Weight, Child, Child, Preschool, Diagnosis, Differential, Electrocardiography, Electroencephalography, Female, Finland, Geography, Humans, Infant, Intelligence Tests, Life Expectancy, Male, Pedigree, Socioeconomic Factors, Amino Acid Metabolism, Inborn Errors diagnosis, Amino Acid Metabolism, Inborn Errors genetics, Amino Acid Metabolism, Inborn Errors metabolism, Amino Acid Metabolism, Inborn Errors physiopathology, Aspartic Acid metabolism, Carbohydrate Metabolism, Inborn Errors diagnosis, Carbohydrate Metabolism, Inborn Errors genetics, Carbohydrate Metabolism, Inborn Errors metabolism, Carbohydrate Metabolism, Inborn Errors physiopathology, Glucosamine metabolism, Intellectual Disability diagnosis, Intellectual Disability genetics, Intellectual Disability metabolism, Intellectual Disability physiopathology
Published
1972

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