Original ArticlesInborn errors of metabolism in the Italian pediatric population: A national retrospective survey☆
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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
2023, Molecular Genetics and Metabolism ReportsExtended Risk of Mortality in Children with Inborn Errors of Metabolism: A Longitudinal Cohort Study
2023, Journal of PediatricsCitation Excerpt :An Australian cross-sectional study of death records from 120 children with inborn errors found that disorders of intermediary and energy metabolism were principal causes of neonatal death, and most deaths between 1 and 14 years were due to lysosomal storage and energy metabolism disorders.4 An Italian investigation of 1935 children noted that most deaths before 18 years were due to primary lactic acidemias and peroxisomal or lysosomal disorders, although the specific age of death was not reported.10 In our cohort, disorders of mineral metabolism exhibited the greatest risk of mortality within 28 days of life, whereas disorders of sphingolipid metabolism were associated with the greatest risk between age 1 and 14 years.
Newborn screening for Pompe disease in Italy: Long-term results and future challenges
2022, Molecular Genetics and Metabolism ReportsCitation Excerpt :The overall incidence of PD from our NBS data was 1 in 18,795 (IOPD 1 in 68,914; LOPD 1 in 25,843). The reported clinical prevalence of PD worldwide is 1 in 40,000 [49], whilst a previous Italian study estimated an incidence of 1:120,743 [50]. The difference with our results could be explained by the recent immigration from Africa (4/11 patients), where there is a higher incidence of consanguinity (2/4 our patients, pt.4 and pt.25), but also by the identification of a high number of LOPD patients.
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
2024, Orphanet Journal of Rare Diseases
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Supported by the Italian Ministry of Health, grant ICS 120.2/RF96.349.