The basic genetic defect in the Hutchinson-Gilford Progeria Syndrome (progeria), 
a premature aging syndrome, is unknown. To investigate possible defects in 
hyaluronic acid (HA) metabolism in this disease, the urinary excretion of HA was 
studied. Urine specimens from 11 patients with this disorder were examined for 
HA by a novel high performance liquid chromatography (HPLC) technique. In 
patients with progeria, HA excretion ranged from 169 micrograms HA/g creatinine 
to 1440 micrograms HA/g creatinine. In normal age-matched controls, HA excreted 
ranged from 0 to 77 micrograms HA/g creatinine. In all, a mean 17-fold increase 
in HA excretion was observed in patients with progeria when compared with 
age-matched normal controls. Total glycosaminoglycan (GAG) excretion was not 
elevated. Amongst normal controls, a modest age-related increase in HA excretion 
was observed. These results suggest that urinary HA levels are abnormally 
elevated in progeria.