Open AccessFree N ‐Acetylneuraminic Acid in Tissues in Salla Disease and the Enzymes Involved in Its Metabolism
Author(s) -
RENLUND Martin,
CHESTER M. Alan,
LUNDBLAD Arne,
PARKKINEN Jaakko,
KRUSIUS Tom
Publication year - 1983
Publication title -
european journal of biochemistry
Language(s) - English
Resource type - Journals
eISSN - 1432-1033
pISSN - 0014-2956
DOI - 10.1111/j.1432-1033.1983.tb07114.x
Subject(s) - sialic acid , neuraminidase , enzyme , n acetylneuraminic acid , biochemistry , chemistry , metabolism , neuraminic acid
Salla disease is a lysosomal storage disorder of unknown etiology, characterized biochemically by increased urinary excretion of N ‐acetylneuraminic acid. This compounds has now been shown to occur in abnormally large amounts in liver and cultured skin fibroblasts from these patients. Quantification of N ‐acetylneuraminic acid was performed using a new gas‐chromatography/mass spectrometric single‐ion method which is sensitive and specific. No abrormalities in the activity of several enzymes involved in sialic acid metabolism ( N ‐acetylneuraminate:pyruvate lyase, neuraminidase, CMP‐ N ‐acetylneuraminate N ‐acylneuraminohydrolase and CTP: N ‐acylneuraminate cytidylyltransferase) were demonstrable. A possible explanation for the defect is a malfunctioning active transport of N ‐acetylneuraminic acid across the lysosomal membrane.