I went to my office this morning and then to the library. In my own reading it is still peculiar that Bertrand does not seem to exhibit the characteristic changes of patients with oligosaccharidoses. He does not have a coarsening of the facial features, his bone strcture is normal, he does not have enlargement of the liver or spleen, no hearing loss, big tongue, etc., etc., etc.
In regards to diagnoses I read the following from the first volume of Pediatric Neurology: Principles and Practice (4th ed) ed by Kenneth Swaiman:
Patients with glycoproteinoses have excessive urinary excretion of oligosaccharides, the pattern of which can be discerned by thin-layer chromatography. More recently, electrospray ionization-tandem mass spectrometry has been used to dientify characteristic oligosaccharides profiles from small samples of urine, plasma, or whole blood spotted onto filter paper (Ramsey et al. 2003). However the diagnoses of the particular underlying enzyme deficiency still requires the performance of relevant biochemical assyas on leukocytes or cultured skin fibroblasts.
Ramsey SL, Meikle PJ, Hopwood JJ: Determination of monosaccharides and disaccharides in mucopolyshaccharidoses patients by electrospray ionization mass spectrometry. Mol Gen Metab 2003;78:193.
There was no mention of a liver biopsy.
I think the first step is to see whether the thin layer chromatography was performed on the urine.
--Manuel F. Casanova, Bertrand's Grandfather
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