Reference center for hereditary metabolic diseases provides outpatient and inpatient services for patients of all ages from prenatal diagnostics (fetal tests before birth), neonatal screening for hereditary metabolic diseases, comprehensive testing for these diseases, follow up, specific treatment and management of symptoms.

Neonatal screening and hereditary metabolic diseases diagnostics laboratory is equipped to diagnose most of currently known hereditary metabolic diseases including hereditary aminoacid, urea cycle, fatty acid, ketone, carbohydrate, creatine metabolism, mitochondrial, lysosomal storage, glycosylation and other disorders.

Various specialists consult and treat patients: geneticists, pediatricians, neurologists, cardiologists, gastroenterologists, intensive care specialists, dietologists and others, depending on the disease. Other help includes psichologist consultations, developmental and intelligence assessment, social support. Families receive genetic counseling, prenatal diagnostics during pregnancy - chorionic villus sampling and amniocentesis.

Read more

History of Reference center for hereditary metabolic diseases starts more than 45 years ago. Genetic testing was initiated in 1973, neonatal screening for PKU in 1975. Since then, over 1,5 million neonates were tested and over 300 hereditary metabolic diseases were diagnosed and treated.

Neonatal screening and hereditary metabolic diseases laboratory successfully participates in external quality control programmes: Newborn Screening Quality Assurance Program USA and European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism. Each year over 600 patients from Vilnius University Hospital Santaros Klinikos and other hospitals are tested in the laboratory. Over the last few years, rare diseases, such as, 4 hydroxybutyric aciduria (~350 described cases worldwide), creatine transporter deficiency (prevalence <1/1 000 000), nonketotic hyperglycinemia (prevalence 1-9/1 000 000), formiminoglutamic aciduria (11 cases described worldwide), propionic academia, mevalonic aciduria (prevalence <1/1 000 000), argininosuccinate lyase deficiency (prevalence <1/1 000 000), alpha mannosidosis (prevalence 1/1 000 000), mucolipidoses type II and III (prevalence <1/1 000 000), mucopolysaccharidoses type III, IV,  VI, VII, glycerol kinase deficiency (prevalence unknown),  pyruvate dehydrogenase E2 deficiency (7 described cases worldwide) and other rare and ultrarare hereditary metabolic diseases.

Long lasting and extensive international cooperation – first international human genetics course including hereditary metabolic diseases was held in 1997. In 2002, 8th Asian-European Workshop on Inborn Errors of Metabolism, AEWIEM and in 2009 European Society of Human Genetics/ Lithuanian Society of Human Genetics, ESHG/LSHG course „Translating genomics into the clinics” took place in our hospital.

Specialists in the Reference center for hereditary metabolic diseases participate in the activities of the main global professional society - Society for Study of Inborn Errors of Metabolism, SSIEM, and Baltic metabolic group (established in 2007). Baltic metabolic group is also led by our expert dr. Jurgita Songailiene. This group is a member of SSIEM and organize regular conferences and courses in select metabolic diseases, where lectures are given by well known specialists from abroad. Center’s specialists regularly participate in international conferences (including SSIEM symposia, European Society of Human Genetics conferences, European Society for Phenylketonuria symposia and others), specialized courses (SSIEM Academy, ARNDIM exchange programme, Orphan Europe courses). Center’s specialists have trained in National Metabolic Diseases Center of The Children's Memorial Health Institute (Warsaw), Metabolic Diseases Laboratory of Free University of Amsterdam (Netherlands), Metabolic Diseases Centre of St Radboud University (Netherlands), The Metabolic Research Unit Maastricht (Netherlands), The National Centre for Inherited Metabolic Disorders (Ireland), Ljubljana Clinical institute of medical genetics (Slovenia) and others.

Lectures and courses in Vilnius University Hospital Santaros Klinikos have been given by well known metabolic diseases experts: prof. Ewa Pronicka, prof. Jolanta Sykut-Cegielska (Poland), prof. Cornelis Jakobs, prof. Leo Spaapen (Netherlands), prof. Viktor Kozich and others.

Reference center for hereditary metabolic diseases together with Reference Center for Lipidology have joined European Reference Network for Hereditary Metabolic Diseases (MetabERN) in 2017. MetabERN currently unites 78 centers (69 true members and 9 affiliated members) from 23 countries. On 17-20 March 2020 online course “Modern diagnostics, treatment and monitoring of hereditary metabolic diseases” took place in cooperation with MetabERN and prof. Stefan Kölker (Heidelberg University, Germany).

Reference center cooperates with Vilnius University Faculty of Medicine to conduct research and teaching activities – students (Medicine, physiotherapy, occupational therapy, odontology, public health, nursing, genetics); master’s degree (Medicine biology and medical genetics); residency (clinical genetics, odontology, dermatology, neurology and others); doctoral studies. Clinical genetics residency and medical genetics master’s degree includes consistent teaching of hereditary metabolic diseases, other specialties include teaching to varying degree. 5 textbooks and teaching aids for teaching metabolic diseases have been published; another 3 chapters on metabolic diseases have been published in other textbooks. 4 doctoral dissertations related to metabolic diseases were defended. National and international studies and projects are constantly conducted and the results are presented in Lithuanian and international journals and conferences.

All these activities ensure dissemination of knowledge and continuous progress in the field of metabolic diseases.

The association “DALIA” ( under the Medical Genetics Centre unites families which have children with Phenylketonuria has been established in 1995. Since then close cooperation between physicians and patients has resulted in various courses, camps, conferences and other events for patients and their families. The organization also participates in the activities of international patient organizations and Ministry of Health taskforces – submitting proposals and drafting legal documents that would affect the lives of patients with phenylketonuria. Teaching aids have been prepared for the patients (latest edition – “Phenylketonuria and its dietary treatment” – Vilnius, UAB „Vaistų žinios”, 2014).  

Last edited: 2022-04-21
To the top