Sialuria
MONDO:0010028Sialuria 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.
Also known as: sialuria, sialuria, French type
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Lysosomal storage disease
(35)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Free sialic acid storage disease
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)