Overview

The Department of Biochemical Genetics was established in 1990 and acts as a reference centre in Cyprus. It provides specialized biochemical tests for the diagnosis and monitoring of inherited metabolic disorders (inborn errors of metabolism) and neuromuscular diseases. There are about 400 known inherited metabolic disorders, most of which present in infancy or childhood with non-specific symptoms like failure to thrive, psychomotor retardation, seizures and hypotonia. Many of these conditions are severely disabling but in some diseases affected children can live a normal life if their problem is recognized early enough for prompt treatment.

In the past nothing was done about these disorders in Cyprus and most of the affected children died undiagnosed while a few were sent abroad. Approximately 350 children per annum are now investigated for inherited metabolic disorders in close collaboration with doctors from the Paediatric Department of Makarios Hospital.

Among the diagnoses made so far are Maple Syrup Urine Disease, Non-ketotic Hyperglycinaemia, Galactosaemia, Carbamyl phosphate synthase deficiency, Fructose-1,6, -biphosphatase deficiency, Sandhoff disease, GM1 gangliosidosis and mitochondrial disorders. For the diagnosis of inherited metabolic disorders a variety of specialized biochemical tests are performed including amino acids, lactate, pyruvate, carnitine and lysosomal enzymes. For the diagnosis of Neuromuscular diseases, muscle biopsies are analysed for structural proteins like dystrophin and enzymes like mitochondrial and glycolytic enzymes. The Department of Biochemical Genetics performs approximately 2,500 biochemical tests per annum. External quality control is systematically carried out by collaboration with centres in Europe.

Moreover, the department carries out therapeutic drug monitoring for antiepileptic medications, methotrexate, cyclosporine and tacrolimus (4,000 tests per annum). The patients who benefit from this service include patients with epilepsy, children with leukaemia and patients who have undergone organ transplantation (kidney, liver, heart and bone marrow).