Klinik: 

Definition: Die Sialurie ist eine autosomal rezessive Erkrankung, die durch Mutationen des GNE-Gens hervorgerufen wird.

Literatur: 

Don NA et al. (1991) Sialuria: a follow-up report.
Enns GM et al. (2001) Clinical course and biochemistry of sialuria.
Hooft C et al. (1968) Familial non-congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreo-athetosis.
Kamerling JP et al. (1979) 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria.
Krasnewich DM et al. (1993) Clinical and biochemical studies in an American child with sialuria.
Leroy JG et al. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition.
Montreuil J et al. (1968) [Description of a new type of melituria, called sialuria]
Seppala R et al. (1999) Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
Seppala R et al. (1991) Sialic acid metabolism in sialuria fibroblasts.
Thomas GH et al. (1985) Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.
Thomas GH et al. (1989) Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.
Weiss P et al. (1989) Identification of the metabolic defect in sialuria.
Wilcken B et al. (1987) Sialuria: a second case.