Clinical and laboratory diagnosis of Salla disease in infancy and childhood.
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.
D000367:Age Factors; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D005260:Female; D005387:Finland; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D012794:Sialic Acids / Q000378:metabolism* / Q000652:urine; D012867:Skin / Q000648:ultrastructure
D012794:Sialic Acids; D006867:Hydrolases