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 yr of age but the patients have an apparently normal life-span. The clinical features of Salla disease in 6 infants and young children are described. The background for laboratory diagnosis by TLC or spectrophotometric determination of sialic acid in urine is provided.