Inherited metabolic disorders in Cyprus
Theodoros Georgiou1, Petros P Petrou1, Anna Malekkou1
1Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Molecular Genetics and Metabolism Reports
|May 2, 2024
Summary
Cyprus established selective screening for inherited metabolic disorders (IMD) in 1990. Over 33 years, 200 diagnoses were made, revealing a minimal prevalence of 53.3 per 100,000 live births, with amino acid metabolism disorders being most common.
Area of Science:
- Medical Genetics
- Biochemistry
- Public Health
Background:
- Selective screening for inherited metabolic disorders (IMD) was initiated in Cyprus in 1990.
- A centralized Biochemical Genetics laboratory facilitated the creation of a national IMD registry.
Purpose of the Study:
- To report the findings of 33 years of IMD screening in Cyprus.
- To determine the prevalence and spectrum of IMD in the Cypriot population.
- To identify population-specific genetic variants and compare incidence rates with other Caucasian populations.
Main Methods:
- Analysis of data from 7388 patients investigated for IMD over 33 years.
- Calculation of minimal prevalence and diagnostic yield.
- Categorization of IMD by metabolic group and specific disorder.
- Molecular characterization of selected IMD cases.
Main Results:
- A diagnostic yield of 2.7% with 200 IMD diagnoses made.
- Minimal IMD prevalence of 53.3 cases per 100,000 live births.
- Most common IMD groups: amino acid metabolism (41.0%), carbohydrate metabolism (16.5%), complex molecule degradation (16.5%).
- Most common IMD: Hyperphenylalaninaemia (14.0%), galactosaemia (7.0%), glutaric aciduria type I (5.5%), MSUD (4.0%).
- Identified specific high-incidence disorders in certain communities (e.g., Sandhoff disease, GM1 gangliosidosis).
- Observed higher incidence of galactosaemia, glutaric aciduria type I, and MSUD compared to other Caucasian populations.
- Observed lower incidence of fatty acid oxidation defects, Gaucher disease, and classic PKU.
- Discovered novel genetic variants specific to the Cypriot population.
Conclusions:
- The Cyprus IMD screening program has established a national registry and provided valuable epidemiological data.
- Specific IMDs show unique prevalence patterns in Cyprus, including higher rates for certain amino acid and carbohydrate metabolism disorders.
- Molecular studies have identified novel, population-specific genetic variants, contributing to a better understanding of IMD genetics.
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