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sialuria

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
Uniprot Description In 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.
Disease Ontology Description A lysosomal storage disease characterized by increased sialic acid in the urine.
Mondo Term and Equivalent IDs
MONDO:0010028:  sialuria
GARD:0004865: 
OMIM:269921: SIALURIA
Orphanet:3166: 
SCTID:238051008: