An infant with Hurler's syndrome was placed on an ascorbic acid-deficient diet at age 10 weeks. The clinical, radiological, and chemical changes that occurred during 1 year on this diet are described. Although the disease was progressive in the skeleton, there was little clinical involvement of the liver, spleen, cornea, and brain. Physical growth and psychomotor development were within normal limits during the year. The urinary excretion of glycosaminoglycans was not altered by ascorbic acid depletion. The clinical variability observed in Hurler patients precludes any conclusions as to the effect of this diet on the natural history of this disease.
Ascorbic acid levels became undetectable in the plasma and buffy coat, respectively, at 16 and 32 weeks of the diet. Even after 52 weeks on the scorbutogenic diet, the patient did not demonstrate any clinical or chemical evidence of scurvy, and wounds healed normally. This raises the question whether isolated ascorbic acid deficiency with an otherwise adequate diet will produce infantile scurvy, or whether patients with Hurler's syndrome have a unique requirement for vitamin C.