6533b85bfe1ef96bd12bac09
RESEARCH PRODUCT
N-Acetylneuraminic acid storage disease
Michael CantzW. BaumannJ. BaumkötterJürgen W. SprangerJ. GehlerH. FriebolinK. Mendlasubject
Malemedicine.medical_specialtyMagnetic Resonance SpectroscopyMucopolysaccharidosisHepatosplenomegalyNeuraminidaseBiologySialidaseDiagnosis Differentialchemistry.chemical_compoundInternal medicineNeuraminic acidGeneticsmedicineHumansCells CulturedGenetics (clinical)Respiratory infectionmedicine.diseaseSialic acidRadiographySalla diseaseEndocrinologyLiverchemistryBiochemistryChild PreschoolSialic Acidsbiology.proteinChromatography Thin Layermedicine.symptomLysosomesNeuraminidaseMetabolism Inborn Errorsdescription
Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with mental retardation, ataxia, and clinical and radiologic findings of a mild mucopolysaccharidosis. A diagnosis of Salla disease was made though in contrast to earlier reports, recurrent upper respiratory infections and hepatosplenomegaly were present already in infancy, and skeletal abnormalities of dysostosis multiplex were found in early childhood. Free sialic acid in the urine was identified as N-acetylneuraminic acid by 1H-NMR spectroscopy. Sialidase activities were normal. Increased amounts of bound sialic acid were found in liver and cultured fibroblasts and were attributed to an intracellular inhibition of sialyloligosaccharide-degrading neuraminidase by excessive amounts of free neuraminic acid. The molecular basis of N-acetylneuraminic acid storage disease is unknown but may be related to a defective transport mechanism preventing neuraminic acid from leaving the lysosomal compartment.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1985-10-01 | Human Genetics |