Urinary oligosaccharides of mannosidosis.

Structural analysis of the major urinary oligosaccharides in feline alpha-mannosidosis.

Two homologous series of urinary oligosaccharides were identified by h.p.l.c. and fast-atom-bombardment mass spectrometry in feline alpha-mannosidosis. The predominant series has the composition Man2-8GlcNAc2 and a minor series the composition Man2-9GlcNAc. The structure of the most abundant oligosaccharide, which accounts for over 80% of the urinary oligosaccharide, was shown to be alpha-D-Man...

Alpha-mannosidosis

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in th...

Neurology of adult alpha - mannosidosis .

The pathogenesis of the cauda equina syndrome of ankylosing spondylitis is unknown. The long duration between the onset of ankylosing spondylitis and neurological symptoms (average 35 years in the Mayo Clinic series') argues against a shared inflammatory cause, as does the relative normality of CSF.' 2 Matthews suggested that arterial pulsations transmitted to the CSF might produce not only the...

Psychiatric symptoms in alpha-mannosidosis.

Alpha-mannosidosis is characterized by mild to moderate intellectual disability (ID), moderate to severe neurosensory hearing loss, frequent infections, psychomotor disturbances and skeletal dysmorphism. For the first time, a panel of nine alpha-mannosidosis patients with psychiatric symptoms is presented. The clinical picture has several similarities: a physical or psychological stressor prece...

Urinary oligosaccharides in pregnant or lactating women: pitfall in screening.