Sialic acid storage disease.

Archives of disease in childhood ·Vol. 65 ·No. 3 ·1990-03-00 ·Pages 314-5

Cameron PD, Dubowitz V, Besley GT, Fensom AH

Abstract

A baby girl with coarse facial features, hepatosplenomegaly, and developmental delay had raised free sialic acid concentrations in her urine and cultured fibroblasts. She died aged 13 months. Sialic acid is an important constituent of many glycoproteins and glycolipids; impaired release from the lysosome may be the underlying biochemical defect.

MeSH Terms

Carbohydrate Metabolism, Inborn Errors/diagnosis Female Humans Infant, Newborn Sialic Acids/metabolism

Chemicals

Sialic Acids

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Cameron P D

Hammersmith Hospital, London.

Dubowitz V

Besley G T

Fensom A H

References (6)

6 references, click to expand

"Salla disease": a new lysosomal storage disorder.
Arch Neurol. 1979 Feb;36(2):88-94 PMID: 420628
Sialidosis: a review of human neuraminidase deficiency.
Am J Hum Genet. 1979 Jan;31(1):1-18 PMID: 107795
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.
J Inherit Metab Dis. 1989;12(2):152-6 PMID: 2502674
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.
J Clin Invest. 1986 Feb;77(2):568-74 PMID: 3944269
Sialuria: a second case.
J Inherit Metab Dis. 1987;10(2):97-102 PMID: 2443758
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.
Pediatrics. 1983 Oct;72(4):441-9 PMID: 6889058

Article Info

Journal

Archives of disease in childhood

Abbr.

Arch Dis Child

ISSN

1468-2044

DOI

10.1136/adc.65.3.314

Published

1990-03-00

Pages

314-5

Language

English

Region

England

NLM ID

0372434

PMCID

PMC1792249

Subset

External Links

PubMed source DOI: 10.1136/adc.65.3.314 PMC Full Text View journal details

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