Clinical Genetics & Metabolic disorders clinic

Profile

The Genetics Clinic was established in 1994 and is located at Makarios III Hospital in Nicosia. It serves as the SHSO’s nationwide referral centre for Rare Diseases and at a European level, is one of the longest-standing genetics departments.

Patients from all over Cyprus are referred to the Genetics Clinic for the investigation of potential rare diseases with a genetic aetiology.

Additionally, the clinic conducts evaluation and genetic investigation, if required, of hospitalised children in the clinics of Makarios III Hospital, including the paediatric clinic, the Neonatal and Children’s Intensive Care Unit and the Paediatric Oncology Department, as well as other hospitals.

Common conditions that require genetic investigation by the Clinic include:

• Neurodevelopmental disorders, including global developmental delay, autism, speech and language delay.
• Intellectual disability
• Epilepsy
• Neurodegenerative disorders
• Developmental malformations and defects, whether isolated or multiple
• Congenital heart diseases
• Hereditary kidney diseases
• Hereditary eye disorders
• Endocrine disorders with a suspected genetic predisposition
• Suspected genetic pulmonary diseases
• Skeletal dysplasia
• Collagen disorders
• Genetic counselling for cases with known hereditary diseases in the family
• Evaluation for suspected diseases of genetic aetiology during the prenatal period
• Multiple miscarriages
• Infertility

The Inborn Errors of Metabolism (IEM) Clinic has operated as a separate department of the Genetics Clinic since January 2022, under the responsibility of Dr. Olga Grafa. Inborn Errors of Metabolism, also known as inherited metabolic disorders, constitute a large and heterogeneous group of rare, genetically determined metabolic disorders. There are currently over 1500 IEM recorded, each of which is extremely rare, but collectively have a frequency estimated to be greater than 1 in 1000.

The clinic examines children and adults for whom there is suspicion or diagnosis of an inborn error of metabolism.

Examples of inborn errors of metabolism include:

• Amino acid disorders (phenylketonuria/hyperphenylalaninemia, tyrosinemia, homocystinuria, maple syrup urine disease – MSUD)
• Organic acidurias (glutaric aciduria, methylmalonic aciduria, propionic aciduria, isovaleric aciduria)
• Glycogen storage diseases
• Disorders of fatty acid metabolism
• Lipid disorders
• Disorders of metal and vitamin metabolism
• Lysosomal storage disorders (lysosomal diseases, mucopolysaccharidoses)
• Mitochondrial disorders

Our approach to evaluating patients at our clinic includes a thorough individual and family medical history, clinical examination, common laboratory tests, and if necessary, imaging studies. Subsequently, specialized metabolic and genetic tests are conducted based on each case.

The follow-up of diagnosed patients is based on international guidelines and requires close collaboration with other specialties within and outside Arch. Makarios III, as well as with scientific reference teams at the European level. Special emphasis is given to the application of newer therapies that may be available for rare diseases.

An integral part of our work is the presentation of our findings at scientific events both at the Cypriot and European levels.

Referrals can be made by physicians of all specialties from the public and private sectors, as well as by other healthcare professionals or Ministry of Education personnel (Special Education Committee, Educational Psychologists, etc.). The Genetics Clinic and the Inborn Errors of Metabolism Clinic operate by appointment, from Monday to Friday, 8 am to 2 pm, with appropriate arrangements for cases referred with urgent indications.