Sialic acid storage disease.
A baby girl with coarse facial features, hepatosplenomegaly, and developmental delay had raised free sialic acid concentrations in her urine and cultured fibroblasts. She died aged 13 months. Sialic acid is an important constituent of many glycoproteins and glycolipids; impaired release from the lysosome may be the underlying biochemical defect.
Cameron
P D
PD
Hammersmith Hospital, London.
Dubowitz
V
V
Besley
G T
GT
Fensom
A H
AH
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012794:Sialic Acids / Q000378:metabolism*
D012794:Sialic Acids