2020/08/12 by Grunewald, Stephanie
Agricultural and Biological Sciences · Business, Management and Accounting · #Agriculture and Agroindustry Studies #Management and Optimization Techniques
paper · doi:10.34763/jmotherandchild.20202402si.2028.000001
openalex publication_date 2020/08/12 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/15
Why rare disorders matter: lessons to learn from Inborn Errors of Metabolism As the journal Developmental Period Medicine/Medycyna Wieku Rozwojowego has recently taken off as Journal of Mother and Child (JMC)/Medycyna Wieku Rozwojowego, this is its first special issue dedicated to Inborn Errors of Metabolism (IEM). It brings together papers on several areas of IEM, reflecting on the widely ranged aspects of the care for patients with IEM. The majority of IEM are rare diseases caused by a single gene defect, encoding for enzymes that facilitate the conversion of substrates. This often leads to accumulation of toxic substances or deficiencies of essential metabolites. By definition, a rare disorder affects a small number of people, 1:2,000 (according to the definition used in European countries) and even lower – so why bother? First of all, the cumulative impact of those – and there are close to 8,000 known IEM – is significant and patients deserve early diagnosis and treatment. So sharing the experience of the diagnosis and prognosis, management and treatment of IEM in this issue is highly appreciated.