Tuberous sclerosis: proline and hydroxyproline contents in serum.

The serum levels of proline and hydroxyproline were determined by high-performance liquid chromatography using the post-labeled method with o-phthalaldehyde and sodium hypochlorite in 30 patients of tuberous sclerosis (TS) and compared with those in 32 pathological control subjects of similar age. No significant difference in the levels of serum free hydroxyproline was observed between TS and controls in any age group. In the age group of 9 to 18 years, TS showed significantly higher mean free proline levels in serum than controls with a difference of about 50 mumol/L. In both groups of TS and controls, total and free levels of hydroxyproline from ethanol-extractable serum showed similar age-dependent curves with peak values at age 12 years, and there was also no difference in the 2 levels between the 2 groups. It is suggested that this higher free proline level in TS with the autosomal dominant trait may be explained as the abnormal regulation of proline metabolism.