Inherited metabolic disorders in Cyprus.

Autor:	Georgiou T; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Petrou PP; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Malekkou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Ioannou I; Paediatric Neurology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Gavatha M; Paediatric Neurology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Skordis N; School of Medicine, University of Nicosia, Nicosia, Cyprus., Nicolaidou P; Basic and Clinical Sciences Department, University of Nicosia Medical School, Nicosia, Cyprus., Savvidou I; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Athanasiou E; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Ourani S; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Papamichael E; Neonatal Intensive Care Unit, Archbishop Makarios III Hospital, Nicosia, Cyprus., Vogazianos M; Centre for Preventive Paediatrics 'Americos Argyriou', Limassol, Cyprus., Dionysiou M; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Mavrikiou G; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Grafakou O; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus.; Inborn Errors of Metabolism Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Tanteles GA; Basic and Clinical Sciences Department, University of Nicosia Medical School, Nicosia, Cyprus.; Clinical Genetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Anastasiadou V; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Drousiotou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Apr 23; Vol. 39, pp. 101083. Date of Electronic Publication: 2024 Apr 23 (Print Publication: 2024).
DOI:	10.1016/j.ymgmr.2024.101083
Abstrakt:	Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD. The minimal prevalence of IMD in Cyprus is 53.3 cases per 100,000 live births. The most common group are disorders of amino acid metabolism (41.0%), followed by disorders of carbohydrate metabolism (16.5%), disorders of complex molecule degradation (16.5%), mitochondrial disorders (10.5%) and disorders of vitamin and co-factor metabolism (5.5%). Hyperphenylalaninaemia is the most common IMD (14.0%) followed by galactosaemia (7.0%), glutaric aciduria type I (5.5%) and MSUD (4.0%). Some disorders were found to have a relatively high incidence in specific communities, for example Sandhoff disease among the Cypriot Maronites and GM1 gangliosidosis in one particular area of the island. Other disorders were found to have a relatively higher overall incidence, compared to other Caucasian populations, for example galactosaemia, glutaric aciduria type I and MSUD, while fatty acid oxidation defects, Gaucher disease and classic PKU were found to have a relatively lower incidence. Molecular characterization of selected disorders revealed many novel genetic variants, specific to the Cypriot population. Competing Interests: None. (© 2024 The Authors. Published by Elsevier Inc.)
Databáze:	MEDLINE
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