Department of Inborn Errors of Metabolism and Paediatrics

Our History

Department of Inborn Errors of Metabolism and Paediatrics (DIEMP) was established in place of the Pediatrics Clinic launched in 1952.
The Department’s greatest achievements include:
• initiating in Poland in 1964 the first nationwide screening for phenylketonuria and introducing its treatment;
• introducing in 1969 a nationwide diagnosis and treatment of galactosaemia and hyperphenylalaninemia;
• cooperation with the Department of Screening in expanding early diagnosis of rare congenital metabolic defects other than phenylketonuria in newborns in Poland
• significant research and treatment contribution to the development of treatment methods and monitoring of genetically inherited inborn errors of metabolism
Moreover:
• crucial research and treatment contribution in the area of Cystic Fibrosis (CF) treatment, including a comprehensive approach to patients, modern methods of treatment and rehabilitation, which resulted in extended length of life among patients. Due to the fact that the Dept. was taking care of the largest number of CF patients registered in Poland, the Cystic Fibrosis Treatment Center in Dziekanów Leśny was launched.
• developing methods for the prevention and treatment of different types of urolithiasis in children.

Our Services

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.
  1. Implementing innovative diagnostic and therapeutic methods in the field of inborn errors of metabolism.
  2. 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
  1. 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
  1. Implementation of accepted procedures and standards at the Institute.
  2. Supervision over the activities of the IMC Metabolic Outpatient Clinic.
  3. 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.

Clinic Structure

hozyasz-konrad-kamil

Head of Department
Jolanta Sykut-Cegielska, MD, PhD, Ass Prof


Tel.: 22 32 77 190
klinika.wwmip@imid.med.pl
Building B, 3rd floor

 

hozyasz-konrad-kamil

Deputy Head

Joanna Taybert, MD, PhD
Tadeusz Dorywalski, MD, PhD

 

bijak-teresa Coordinating Nurse
Małgorzata Przybylska
22 32 77 308


The team also includes: 5 full-time and 9 resident doctors, 14 nurses, 1 psychologist, 3 dietitians and 1 medical secretary.

To best care for our patients we work with specialists from other IMC Clinics and Departments, as well as with a social worker - depending on the individual needs of our patients.

 

Participation in scientific societies

The Polish Society of Inborn Errors of Metabolism (PSIEM) is located in the Institute of Mother and Child, and three members of the PSIEM Board are the employees of the Department of Inborn Errors of Metabolism and Paediatrics (DIEMP) - Chairwoman, Deputy Chairwoman and Treasurer.

Doctors employed in DIEMP are also members of other scientific societies in the country: the Polish Pediatric Society or the Polish Phenylketonuria Society.

The Head of the Department together with the Deputy belong to the international Society for the Study of Inborn Errors of Metabolism (SSIEM), and the Head of the department is the Corresponding Member of SSIEM for Poland, Hungary and Russia.

Three dietitians with a university degree employed in DIEMP belong to the Polish Society of Dietetics, the Section of Inborn Errors of Metabolism, and the Chairwoman of the Section acts also as a Correspondent Member for Poland in the international group of "metabolic" dietitians (SSIEM Dietician Group).

Contact with the department

How to become a patient of the Department:

  1. Admission to the Department of Inborn Errors of Metabolism and Paediatrics is based on a medical referral issued by both a health insurance doctor and a private doctor.
  2. If you have received a referral to the Dept. for your child, please contact the Dept.’s secretariat by e-mail (klinika.wwmip@imid.med.pl) or by phone (tel. 22 32 77 190). You will be informed about the date of admission after setting it.

Children with abnormal neonatal screening result are admitted to the first-time hospitalization without referral.

Important information: "How to become a patient of the Institute"

Cooperation

Cooperation within IMC:

  • Department of Newborn Screening and Metabolic Diagnostics [link]
  • Central laboratory [link]
  • Department of Radiology [link]
  • Department of Medical Genetics [link]
  • Social worker [link]
  • Bioethics Committee [link]
  • IMC Foundation [link]
  • Interdisciplinary Team for Diagnosis and Treatment of Fetal and Newborn Malformations,

Our multidisciplinary team:

  • Jolanta Sykut-Cegielska - Metabolic Paediatrician, National Consultant in paediatric metabolic medicine
  • Joanna Taybert - Metabolic Paediatrician, Regional Consultant in pediatric metabolic medicine
  • Anna Bauer - Metabolic Paediatrician
  • Dorota Korycińska-Chaaban - Metabolic Paediatrician
  • Agnieszka Kowalik - Metabolic Clinical Dietician involved in dietary treatment of patients with inborn errors of metabolism
  • Sylwia Gudej - Metabolic Clinical Dietician
  • Katarzyna Kuśmierska - Biochemical specialist involved in diagnostics of metabolic diseases
  • Mariusz Ołtarzewski - Biologist, biochemical specialist involved in diagnostics of metabolic diseases
  • Ewa Jabłońska-Gląb - Laboratory specialist involved in national newborn screening program for metabolic diseases
  • Amanda Krzywdzińska - Psychologist/neuropsychologist
  • Iryna Kossak - Paediatrician involved in paediatric metabolic medicine
  • Marzena Bozio - Paediatrician involved in paediatric metabolic medicine
  • Joanna Żółkowska - Metabolic Dietician involved in dietary treatment mainly of patients with phenylketonuria
  • Małgorzata Przybylska - Clinical Nurse Specialist
  • Agnieszka Magdalena Rygiel - Molecular Geneticist
  • Katarzyna Wertheim-Tysarowska - Molecular Geneticist
  • Agnieszka Piotrowska - Administrator/secretary
  • Beata Banach - Certified social worker

Cooperation outside IMC:

  1. Cooperation with European medical centers under POWER project [link]
  2. Participation in the exchange of information within European and global registries and networks:
  • International Network and Registry E-IMD (IMC as partner)
  • International Network and Registry E-HOD (IMC as a partner)
  • International Network and Registry iNTD (IMC as a partner)
  • International GalNet Registry (IMC as a partner)
  1. Cooperation with national and international patient and parent associations
  • ORPHAN Forum Federation
  • Ars Vivendi Polish Association for Patients with Phenylketonuria and Rare Diseases
  • Association of Families with Fabry Disease
  • GLUT1 Poland Foundation
  • Hypogenek Poland Foundation
  • The AADC Research Trust
  • AKU Society