The history of the field began in 1970, when the "Group for the Study of Inborn Errors of Metabolism" was formally established. This initiative was led by specialists from paediatrics, neurology and biochemistry, both from universities and hospitals, at a time when clinical biochemistry as a field did not yet exist. It should be noted that in Italy, hereditary metabolic disorders were initially referred to as “errori congeniti del metabolism” (inborn errors of metabolism), a direct translation of the English designation coined in 1908 by Sir Archibald Garrod, the founder of this specialist area of medicine.
Nomina sunt consequentia rerum (Justinian)
When discussing the history of the associations and scientific societies in Italy that have focused on hereditary metabolic disorders, it is also important to consider the interactions and collaborations that have developed over time with other medical and human genetics societies.
Starting with the terminology, it is worth remembering that in Italy, hereditary metabolic diseases were originally termed “errori congeniti del metabolism”, a literal translation of the English term “inborn errors of metabolism” coined in 1908 by Sir Archibald Garrod, the founder of this specialist area of medicine.
However, the term "error" has more recently fallen out of favour, particularly among patients. The current terminology used in Italy is “Malattie Metaboliche Ereditarie —MME” (Hereditary Metabolic Diseases — HMD), which aligns with the English term “Inborn Metabolic Diseases” (or Disorders). However, the latter term is not suitable in Italian due to its ambiguous meaning. It should perhaps be clarified that genetic metabolic disorders are distinct from “metabolic diseases,” which are generally of adult onset, such as hyperlipidaemia, diabetes, gout, and the so-called “metabolic syndrome” associated with insulin resistance. For these conditions, other associations exist in Italy, such as the Società Italiana Metabolismo, Diabete e Obesità — SIMDO (Italian Society of Metabolism, Diabetes, and Obesity).
Historia magistra vitae (Cicero)
In 1970, the establishment of the "Group for the Study of Inborn Errors of Metabolism" marked the beginning of this field's history. Experts in paediatrics, neurology and biochemistry, from various universities and hospitals spearheaded this initiative at a time when clinical biochemistry did not yet exist as a field.
In 1975, this group evolved into a scientific society, named the Società Italiana per lo Studio degli Errori Congeniti del Metabolismo — SISECM (Italian Society for the Study of Inborn Errors of Metabolism). The leadership of the society rotated among paediatricians, neurologists, and biochemists, reflecting the broad range of expertise required for both scientific research and the treatment of these conditions.
In 1986, SISECM recognised the need to collaborate with two associations focused on medical genetics and medical cytogenetics (Associazione Italiana di Genetica Medica — AIGM [Italian Association of Medical Genetics] and Associazione Italiana di Citogenetica Medica — AICM [Italian Association of Medical Cytogenetics]). As a result, the Federazione Italiana per lo Studio delle Malattie Ereditarie — FISME (Italian Federation for the Study of Hereditary Diseases) was founded, with SISECM coordinating its activities for the first three years, due to its longer existence. FISME was dissolved in 1997, when the two associations, AIGM and AICM, came together for form the Società Italiana di Genetica Umana — SIGU (Italian Society of Human Genetics).
Meanwhile, in 1993, SISECM changed its name to SISMME (Società Italiana per lo Studio delle Malattie Metaboliche Ereditarie — Italian Society for the Study of Inherited Metabolic Diseases), in a move that could now be considered “politically correct,” removing the term “errors” from the terminology for genetic metabolic diseases.
In the early 2000s, SISMME began collaborating with the Gruppo di Studio di Genetica Clinica Pediatrica — GENCLI (Study Group of Paediatric Clinical Genetics) of the Società Italiana di Pediatria — SIP (Italian Society of Paediatrics), organising several congresses. Simultaneously, SISMME established a close partnership with the Società Italiana degli Screening Neonatali — SISN (Italian Society for Neonatal Screening), founded in 1995 (Information on Neonatal Screening), which eventually led, in 2008, to their merger into a single scientific society, the Società Italiana per lo Studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale — SIMMESN (Italian Society for the Study of Inherited Metabolic Diseases and Neonatal Screening). Figure 1 in the attached file outlines the timeline of the establishment of various scientific societies, their name changes, and their interactions and mergers. Table 1 lists the Chairs who have led SISECM, SISMME and SIMMESN from 1977 to the present.
The congress activities organised by SISECM, SISMM, and SIMMESN since 1976 are detailed in Tables 2 and 3. It is worth noting that from 1988 to 1997, SISECM, and later SISMME, played a key role in organising the FISME national congresses at various locations: Siena (1988); Milan (1989); Perugia (1990); Parma (1991); Genoa (1992); Sorrento (1993); Spoleto (1994, 1995, 1996, 1997). SIMMESN joint events and congresses
For several years, until 2013, SIMMESN promoted congress events in collaboration with the Società Italiana Malattie Genetiche Pediatriche e Disabilità Congenite — SIMGePeD (Italian Society of Paediatric Genetic Diseases and Congenital Disabilities), which was founded in 2007 following the dissolution of the GENCLI study group within the SIP. Figures 2–7 in the attached file show the posters of the 11 SIMMESN congresses (2009–2021).
On the international stage, the Italian societies for inherited metabolic diseases have looked to the Society for the Study of Inborn Errors of Metabolism (SSIEM), founded in 1963 in the United Kingdom, as their reference organisation. SSIEM publishes the Journal of Inherited Metabolic Disease. Since 1984, member of the SISECM and the subsequent societies have served on the Advisory Council and the Council of SSIEM. Italy has hosted two SSIEM Annual Symposia: in Genoa (1999) as SISMME and in Rome (2016) as SIMMESN.