sialuria

sialuria

(1) Salla disease, see there. 
(2) Infantile free sialic acid storage disease, see there.
References in periodicals archive ?
For some while, before he passed away, a sialuria patient in France excreted large amounts (around 10g/day) of free Neu5Ac in urine, which could easily be purified.
1968) Description of a new type of melituria, called sialuria.
Sialuria patients have a defect in uridine-5'-diphosphate-N-acetylglucosamine-2-epimerase /N-acetylmannosamine kinase (GNE/MNK) leading to an overproduction of CMPNeuAc.
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.
Mutations in GNE/MNK have been described in hereditary inclusion body myopathy (hIBM), in distal myopathy with rimmed vacuoles (DMRV), and in sialuria.
Laboratory findings: Highly increased concentrations of urinary free sialic acid (NeuAc) and of fibroblast free sialic acid have been found in patients with sialuria (184, 185).
Another remarkable difference between N- and O-glycan deficiencies is that N-glycan deficiencies generally have recessive inheritance, whereas in some of the O-glycan biosynthesis diseases, such as sialuria and HME, inheritance is autosomal dominant.
A first study on profiling of total serum O-glycans described alterations in the glycans of patients with sialuria (Wopereis S, unpublished data).
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.
This makes it possible to differentiate patients with isolated neuraminidase deficiency, who excrete bound N-acetylneuraminic acid, from patients with Salla disease or French type sialuria, who excrete excess free N-acetylneuraminic acid in urine (13).
Detection of sialuria by cation-exchange high-performance liquid chromatography.