The Department conducts research and provides treatment in:

• inborn errors of metabolism,
• selected problems and diseases of developmental age.

The tasks of Department of Inborn Errors of Metabolism and Paediatrics in these areas include conducting research and treatment, as well as diagnostic and therapeutic activities according to modern medical standards, in particular as follows:

1. diagnostics, consultation and treatment (causal or symptomatic - depending on the diagnosis) - stationary hospitalization of patients aged 0-18, with particular emphasis on those diagnosed with:
   • phenylketonuria and hyperphenylalaninemia - we are the largest and oldest (over 40 years) treatment center for this disease in the country, we are also a reference center in the field of diagnosis of hyperphenylalaninemia and treatment of atypical forms of phenylketonuria
   • galactosemia - we are also a reference center for comprehensive diagnostics and treatment
   • PDH deficit and GLUT1 deficit - ketogenic diet treatment
   • other inborn errors of metabolism identified through the neonatal screening program using tandem mass spectrometry and selective screening, including:

• amino acid metabolism disorders (including glutaric aciduria type I, methylmalonyl aciduria, propionic aciduria, isovaleric aciduria, maple syrup urine disease, tyrosinemia type 1, homocystinuria, citrullinaemia type I and type II, and 3-methylcrotonyliglycinuria)
• carbohydrate metabolism disorders (including fructosaemia, galactosaemia and others)
• fat metabolism disorders (including LCHAD deficiency, MTP deficiency, VLCAD deficiency, MCAD deficiency, CACT deficiency, carnitine uptake defect and other defects) and ketones (including beta-ketothiolase deficiency, MCT1 deficiency)
• vitamin metabolism disorders (e.g. biotinidase deficiency) and neurotransmitters (e.g. AADC deficiency, BH4 deficiency)
• other diseases, e.g. congenital defects of glycosylation, Canavan disease, mitochondrial diseases.

2. Implementing innovative diagnostic and therapeutic methods in the field of inborn errors of metabolism.
3. Cooperation with other clinics, departments and facilities of IMC, as well as outside the Institute, including:
   • providing specialist consultations according to modern medical standards
   • participation in the implementation of research projects in the protection of children and adolescents

4. Conducting scientific research and educational activity in IMC and beyond, including

• dissemination of current knowledge in the field of inborn errors of metabolism, its diagnostics and treatment
• participation and / or conducting post-graduate training
• participation in initiating and implementing research projects, assessments and expert opinions, as well as giving opinions on organizational assumptions in protecting the health of children and adolescents
• organization and participation in national and international scientific courses, symposia and conferences
• conducting research and research projects in accordance with the IMC Organizational Regulations

5. Implementation of accepted procedures and standards at the Institute.
6. Supervision over the activities of the IMC Metabolic Outpatient Clinic.
7. Implementation of drug programs in the IMC: Treatment of severe congenital hyperhomocysteinemia, Treatment of tyrosinaemia type 1.

Department of Inborn Errors of Metabolism and Paediatrics is an accredited center for conducting specialization in pediatrics (as part of the specialization in pediatrics, family medicine and neonatology) and paediatric metabolic medicine. It is also a place of student internships in medicine and nursing, as part of the education of nurses and doctors and nursing specialties. Student Circle of Paediatric Metabolic Medicine (from Medical University of Warsaw), operates at the Clinic. The Head of the Department of Inborn Errors of Metabolism and Paediatrics is its scientific supervisor.