sialuria
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.
MONDO:0017736
disorder of sialic acid metabolism
is_a
MONDO:0019366
free sialic acid storage disease
is_a
sialuria
exact
sialuria, French type
exact
SPBC1773.15 SPBC1683.12 SPBC2G2.01c SPAC1039.04 SPCC757.13 SPCPB1C11.03 SPBC460.05 SPBPB10D8.01 SPCC417.10 SPAC1002.16c SPAC11D3.18c