General University Hospital in Prague-GUH (Všeobecná fakultní nemocnice v Praze- VFN)


Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

The GUH is the leading national hub for patients with all types of inborn errors of metabolism in the Czech Republic. With the exception of PKU, which is treated also in two other centres, GUH offers routine diagnostic and clinical care for a variety of IMDs covering the whole range of biochemical genetics.
In addition to routine diagnostic and clinical care the teams at GUH acquired specialized expertise, which includes also active clinical and/or basic research in the following MetabERN subnetworks:

  • AOA-special interest in disorders of homocysteine and related B-vitamins metabolism (availability of metabolic, enzymatic and DNA testing, and expertise to offer to other members of MetabERN within the E-HOD project, basic research in pathophysiology including hydrogen sulfide metabolism, development of guidelines, development of new diagnostic approaches, testing of new therapies) and in OTC deficiency (molecular genetics, X-chromosome inactivation in OTC, development of OTC assay in plasma)
  • PM-MD-special interest in selected mitochondrial disorders (e.g. TMEM70 deficiency, OPA, LHON, complex I, IV and V deficiencies), Krebs cycle (fumarate hydratase) and in OXPHOS biogenesis; availability of biochemical,
    enzymatic and DNA testing, and of expertise for other MetabERN members
  • LSD- offer to analyze metabolite, enzyme and DNA for the majority of LSDs also as a service for other MetabERN members, specific expertise in chromosome X-inactivation studies, clinical research in many LSDs-namely m.Fabry, LAL, m.Gaucher, m.Pompe, NPC and selected MPSs, basic research interest in MPS IIIC, MPSII, NP A/B/C, NCLs, MLD, m.Fabry, Danon disease and Christianson syndrome
  • CDG- in addition to providing routine test for other MetabERN members also special expertise in enzymology of PMM2, PMI and PGM1, and in functional studies of combined N- and O-glycosylation defects
  • NOMS- special interest in acute porphyrias, availability of enzymatic and DNA testing and expertise to offer to other MetabERN members; Wilson disease- genetic testing and expertise in complete diagnostic procedure including special neurologic imaging; disorders of purine metabolism (metabolite, enzymatic and DNA testing are available to MetabERN members) with basic and clinical research in hyperuricemias and hypouricemias, uric acid transporters, xanthine oxidase and adenylosuccinate lyase deficiencies, and in biology of purinosome.
    The GUH teams participating in MetabERN have also experience in several topics that crossect various MetabERN subnetworks, namely optimization and governance of newborn screening programs, quality issues and education in laboratory diagnostic services, genetic testing (including NGS) and genetic counselling, morphological expertise for IMDs, ethical issues in genetic testing, biobanking and in newborn screening and the use of various model systems for research.


Specialized laboratories offer a wide range of tests necessary for a postnatal diagnosis of IMDs using biological fluids, tissues, cultured fibroblasts, and for prenatal testing also chorionic villi or amniocytes. The biochemical laboratories offer over 60 different tests including profile analyses of amino acids, organic acids, purine and pyrimidines, acylcarnitines, and a number of targeted metabolite assays. Equipment includes amino acid analyzers, HPLC, CE, GC, GC-MS and LC-MS/MS instruments. Each year approximately 2,000 new patients with suspicion for an IMD are referred and diagnosis is confirmed in about 130 new patients. The LC-MS/MS is also used to screen for 15 IMDs in approx. 80,000 newborns per year. Enzymological laboratories are routinely analysing about 40 enzymes (including the comprehensive analysis of mitochondrial oxidative phosphorylation system). The tissue culture laboratory establishes fibroblast tissue cultures from about 100 patients a year and maintains a tissue culture bank. Molecular genetic laboratories offer a wide spectrum of techniques including Sanger sequencing (about 120 genes and mtDNA), MLPA, mRNA analysis and in selected cases also next-generation sequencing (targeted panels as well as the exome). An on-call system is established providing continuous availability of selected tests for patients with acute IMDs.

Inpatient and outpatient care for pediatric and adult patients with IMDs is provided by GUH in Dept. of Pediatric and Adolescent Medicine and in Internal Depts. offering cardiology, gastroenterology, hepatology, endocrinology, nephrology, and other specializations, and a full range of imaging and electrophysiological methods is available. Each year the GUH follows about 900 patients with IMDs. Admission of acutely ill patients with IMD is possible 24 hours/7 days. Inpatient care is offered in standard wards as well as ICUs. The ICUs are equipped with technologies for non-invasive and invasive ventilatory support, extracorporal membrane oxygenation (ECMO), elimination methods (hemodialysis, hemodiafiltration). Specific treatment for IMD includes enzyme replacement therapy, parenteral nutrition, dietary services, and others. Consultant service on phone for IMD patients and outdoor physicians is available 24 hours/7 days. Outpatient clinics provide differential diagnostic expertise of IMD, specialised IMD outpatient care services, nutritional counselling (including dietary treatment monitoring, home enteral nutrition service), genetic counselling.
Psychology (including individual, group, and family psychotherapy sessions) and social care services are available for IMD patients. In order to fully satisfy patient needs, GUH collaborates with the Czech Association for Rare Diseases (ČAVO) as well as other patient organizations – e.g. National Association for Phenylketonuria and other inherited metabolic disorders, Society for Mucopolysaccharidosis and Patient Association META.

Viktor Kožich

Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine and General Hospital Prague