Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sialuria

Sialuria is an autosomal recessive disorder that is caused by mutations of the GNE gene.

Systematic

Glycolipidosis
Inclusion body myopathy 2
Infantile sialic acid storage disorder
Nonaka myopathy
Salla disease
Sialuria
GNE

References:

1.

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.

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2.

Leroy JG et al. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition.

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3.

Thomas GH et al. (1989) Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.

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4.

Enns GM et al. (2001) Clinical course and biochemistry of sialuria.

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5.

Don NA et al. (1991) Sialuria: a follow-up report.

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6.

Seppala R et al. (1991) Sialic acid metabolism in sialuria fibroblasts.

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7.

Wilcken B et al. (1987) Sialuria: a second case.

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8.

Weiss P et al. (1989) Identification of the metabolic defect in sialuria.

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9.

Thomas GH et al. (1985) Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

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10.

Kamerling JP et al. (1979) 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria.

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11.

Montreuil J et al. (1968) [Description of a new type of melituria, called sialuria]

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12.

Hooft C et al. (1968) Familial non-congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreo-athetosis.

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13.

Krasnewich DM et al. (1993) Clinical and biochemical studies in an American child with sialuria.

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14.

OMIM.ORG article

Omim 269921 [^]
15.

Orphanet article

Orphanet ID 3166 [^]
16.

Wikipedia article

Wikipedia EN (Sialuria) [^]
Update: May 10, 2019