[Characteristics of intracellular and excretory glycosaminoglycans in hereditary mucopolysaccharidoses].
A system for detection and diagnostication of mucopolysaccharidoses (MPS) was organized to ensure the medico-genetic service of the families, where these diseases occurred. Content of intracellular and urinary glycosaminoglycans (GAG) was studied by means of a number of methods in various types of MPS. Amount of excreted GAG's was expressed as relative units to reduce the age differences. In all the patients with MPS hyperexcretion of GAG's was found, except of some cases of MPS IV, as well as the spectrum of non-dialyzed and cetyl pyridinium chloride precipitated GAG's was altered, where the latter fraction was increased and high molecular GAG's were also prevailed as compared with normal state. All the patients were divided into four classes depending on the spectrum of GAG's excreted as shown by means of electrophoresis. The data obtained in estimation of GAG's using electrophoretic technique corresponded to the results of column chromatographic analyses but the electrophoretic procedure was distinctly less labour-consuming.
Odinokova
O N
ON
Bialik
M A
MA
Krasnopol'skaia
K D
KD
Iakovlev
S A
SA
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006025:Glycosaminoglycans / Q000378:metabolism* / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009084:Mucopolysaccharidosis III / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D010641:Phenotype
D006025:Glycosaminoglycans
Kharakteristika vnutrikletochnykh i ékskretiruemykh glikozaminoglikanov pri nasledstvennykh mukopolisakharidozakh.