The Unit for the Study of Inborn Errors of Purine Metabolism has been working at La Paz University Hospital since 1980. During this period, 45 patients have been diagnosed with HPRT deficiency, 30 of whom presented Lesch-Nyhan disease. The diagnoses have been made based on clinical, biochemical, enzymatic, and molecular data. The molecular study of these patients has provided carrier and prenatal
diagnoses in the patients’ families. The unit has also diagnosed and studied patients with other inborn errors of purine metabolism including APRT deficiency, xanthine oxidase deficiency, PRPP synthetase overactivity and familial nephropathy associated with uromodulin deposits. The unit is also studying the genetic aspects of primary gout and has collaborated with international researchers from the Purine and Pyrimidine International Society. The unit is a member of the Lesch Nyhan Disease International Study Group and is collaborating with the Lesch Nyhan Spanish Association to create the Lesch Nyhan National Reference centre at the La Paz University Hospital to study the disease.

In the last five years, the unit has obtained four research grants for the study of HPRT deficiency, and in 2007 the unit was incorporated into the Centro de Investigacion

Biomedica en Red de Enfermedades Raras (Centre for Biomedical Network Research on Rare Diseases, CIBERER).

In the last five years, the unit has published approximately 25 studies related to purine metabolism in international journals with a high impact factor.

The unit’s objectives are to improve the diagnosis, treatment and knowledge of the physiopathology of purine metabolism diseases.

The Metabolic-Vascular Unit (MVU) was created in 1993. At the time, Dr. Juan García Puig’s project joined MDs from the La Paz University Hospital (HULP) and primary care centres related to this hospital. The main research objective was the study of arterial hypertension by means of ambulatory blood pressure monitoring (ABPM). This group of
researchers was named the MAPA-MADRID group and is known at HULP as the Metabolic-Vascular Unit (MVU). Dr. Rosa Torres Jiménez joined the MAPA-MADRID group at its inception and together with Dr. Juan García Puig incorporated their studies on purine metabolism into this group.

In its current format, the MVU officially started on February 1, 2008. At the time Dr. Juan García Puig was given the position of Associate Professor at the Autonomous

University of Madrid and was named Clinical Chief at the Division of Internal Medicine (Prof. Juan José Vazquez Rodríguez).

In 2006, Dr. Rosa Torres was given the permanent position of full researcher for the Spanish National Health System, working at HULP.