Abstract
In previous studies on this patient of normal intelligence 6.9% of the normal HGPRT activity and an elevated Km for hypoxanthine in intact fibro-blasts had been found. It was thought that perhaps a slight increase in HGPRT activity could alleviate his neurological symptoms. The patient was treated with hypoxanthine 3 × 1 g + allopurinol 3 × 100 mg daily for 3 months. Serum hypoxanthine and xanthine rose from 0.4 and 0.35 to 1.53 ± 0.11 and 1.19 ± 0.11 mg%, respectively. His 24h urinary excretion of hypoxanthine ranged between 1.34 and 2.02 g. His 24h urinary excretion of dopamine was on an average 25% below our reference values, and his serotonin excretion decreased at 50-70% of his baseline values. The patient felt quieter and suffered less from disturbances of equilibrium. The therapy had to be interrupted because of renal colics. Treatment with tetrahydrobiopterin had no effect on his neurological symptoms although his urinary dopamine excretion increased significantly.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
