Reference Center For Hereditary Metabolic Diseases

Diagnostics

Neonatal screening and hereditary metabolic diseases diagnostics laboratory is equipped to diagnose most of currently known hereditary metabolic diseases. Molecular genetics and cytogenetics laboratory performs sequencing of individual genes, gene panels or whole exome. Some hereditary metabolic diseases (e.g. mitochondrial, carbohydrate or lysosomal storage disorders) require pathological examinations (including histological, immunohistochemical, electron microscopy and others). These tests are performed in the National Center of Pathology. Specialized imaging of the brain, skeletal system and internal organs which are necessary for diagnosis and treatment of some metabolic diseases (e.g. lysosmal storage diseases, mitochondriopathies, aminacids, carbohydrates and fatty acids metabolism disorders) are done in Radiology and Nuclear Medicine Center of Vilnius University Hospital Santaros Klinikos. 

Treatment

Once the diagnosis has been made, recommendations for further examinatio, specific and supportive treatment, and long-term monitoring are provided. Multidisciplinary patient discussions and consultations are organized according to the individual needs of patients. In all cases, the most appropriate plan for the diagnosis, treatment and care of a patient with a metabolic disease is based on the best practice recommendations provided in the algorithms and guidelines for the diagnosis and treatment of metabolic diseases approved by national and international professional organizations. Nutrition is particularly important in some metabolic diseases (e.g. aminoacids, carbohydrates, fatty acids, lipids metabolism disorders, mitochondriopathies). Vilnius University Hospital Medical Genetics Center provides dietitian services, such as nutritional assessment, menu recommendations and other dietitian services. Specific and symptomatic treatment, inpatient care of acute conditions, outpatient consultations, long-term care are also provided. Spoecific nutritional treatment (special foods, ketogenic diet) is prescribed together with a dietitian. Surgery, other specialist consultations are orovided if necessary. Whenever possible, international guidelines are used to plan long-term care and if there are none, individual treatment and care plan is developed.

Neonatal screening and treatment and long-term care of patients with metabolic diseases are carried out in accordance with the Order of the Ministry of Health of the Republic of Lithuania No. V-601 “On the description of the procedure of neonatal screening for congenital metabolic diseases” (2014 May 22).

If phenylketonuria and / or galactosemia are suspected, the neonate will be examined and, if necessary, treated by a geneticist at the Medical Genetics Center of the VUH Santaros Klinikos. Care of other hereditary metabolic diseases is performed by a team of pediatric and adult specialists. Metabolic diseases can damage any organ or system in the body and affect patients of all ages; some metabolic diseases cause acute symptoms that require intensive care or inpatient treatment.