Disease - Sialuria
- DefinitionIn sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.
- AcronymSIALURIA
- Alternative names
- Cross references
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Browse 1 entry- Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase · Gene: GNE (GLCNE, IBM2) · Homo sapiens (Human) · 722 amino acids · Evidence at protein level · Annotation score: 5/5