Inborn Errors of Metabolism - a legacy of multiple specialties

Abstract

Inborn errors of metabolism (IEM) are genetic diseases, mostly due to enzyme deficiencies leading to severe metabolic damages, increasingly diagnosed. The aim is to describe the history of the development of IEM diagnosis and treatment in the Hospital of Clinics of Ribeirão Preto, São Paulo University (HCFMRP-USP). At the beginnings of the Post-Graduate Programs in the School of Medicine of Ribeirão Preto of São Paulo University (FMRP-USP), the first thesis on IEM was performed in 1980 on cystinuria in the area of Genetics; G6PD goal was the second in 1987 in Pediatrics. Since that time, IEM diagnosis was possible, in the sequence, due to the chromatography of amino acids routine by the Center for Protein Chemistry, FMRP-USP in 1984, the partnership with the Department of Genetics, Hospital of Clinics of Porto Alegre. RS in 1988 and the urine screening in the Nutrology Laboratory of FMRP-USP, that resulted of a Master in Neurology in 1990. In the last two decades: the specialized outpatients clinics, the Program for Neonatal Screening, treatment by enzyme replacement and support of the Stem Cell Transplantation Center were implemented. It is noteworthy that by 2009, just one more thesis was presented. The perspective for the development of this area is the consolidation of a line of research focused exclusively on the EIM in FMRP-USP.