Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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 external link
15.

Orphanet article

Orphanet ID 3166 external link
16.

Wikipedia article

Wikipedia EN (Sialuria) external link
Update: Aug. 14, 2020
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