Institute of Mother and Child

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

The Department of Inborn Errors of Metabolism and Paediatrics conducts research and provides diagnosis and treatment according to modern medical standards. Diagnostics, consultation and treatment (causal or symptomatic – depending on the diagnosis) together with stationary hospitalization is provided to 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 these diseases in the country. We are also a reference center in the field of diagnosis of hyperphenylalaninemia and treatment of atypical forms of phenylketonuria
    • galactosemia (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)
          • disorders of fat metabolism (including LCHAD deficiency, MTP deficiency, VLCAD deficiency, MCAD deficiency, CACT deficiency, carnitine uptake defect and other defects) and ketone metabolism (including beta-ketothiolase deficiency, MCT1 deficiency)
          • vitamin metabolism (e.g. biotinidase deficiency) and neurotransmitters metabolism (e.g. AADC deficiency, BH4 deficiency) disorders
          • other diseases, e.g. congenital defects of glycosylation, Canavan disease, mitochondrial diseases.

The 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.

Types of services covered by the healthcare provider:

Prevention (e.g. genetic screening)

IMC is a national coordinator of the programme of extended newborn screening covering the whole Polish newborn population, which allows a presymptomatic diagnosis, as a secondary prophylactic action. Molecular analysis (after obtaining an informed consent from the newborn’s mother) is a part of the newborn screening procedure, and is done, when required for a confirmation of diagnosis of inborn error of metabolism and/or to find out a genotype-phenotype correlation. For the siblings of affected patients a family screening is offered and performed, based on biochemical and/or genetic biomarkers.

Acute care

Basic laboratory of hematological, microbiological and biochemical tests, as well as radiological diagnostic methods (USG, X-ray, CT, MRI) and EKG are available 24 hours a day, 7 days a week. Urgent metabolic analyses are available, when needed, in the IMC metabolic laboratory. Also a 24/7 access to two intensive care units (for newborns and elder patients), to a paediatric emergency room and also to specialist consultations of anesthesiologist, neurologist, neonatologist, oncologist and surgeon are guaranteed. Access to emergency drugs, food of special medical purpose and parenteral nutrition, is available as necessary.

Ambulatory services

The metabolic out-patient clinic is opened at all working days. There are different dates of the ambulatory visits for patients with phenylketonuria, galactosaemia and other non-PKU disorders. Additionally, a metabolic dietetic consultation is everyday available. Basic laboratory analyses (hematological, immunological, microbiological, biochemical, etc) and special metabolic tests done in the Department of Newborn Screening and Metabolic Diagnostics, but also genetic procedures are available. The unit also provides consultation of specialists in different medicine fields (neurology, cardiology, ophthalmology, nephrology, etc.) as well as a genetic counselling service.

Diagnostic services

Diagnosis of inborn errors of metabolism is made at clinical, biochemical, enzymatic and/or molecular basis. Several clinicians experienced in metabolic medicine are working in the out- and in-patient metabolic clinic. The Department of Newborn Screening and Metabolic Diagnostics (including the Biochemical Unit) in IMC offers a wide range of metabolic tests such as urinary organic acid profile by GC/MS method, amino acid analysis by HPLC, amino acid and acylcarnitine profiles by MS/MS, enzymatic tests such as MCAD, VLCAD, CPT1 and CPT2, neurotransmitter analysis etc. Moreover, many genetic procedures are available, including DNA sequencing by NGS and Sanger methods. Radiological and nuclear medicine services including USG, X-ray, CT, MRI, MRS, EKG, ECHO and EEG are available. Diagnostic services include specialist consultations, if needed.

Interventional therapeutic services

All patients with diagnoses of inborn errors of metabolism receive treatment according to the current recommendations and clinical experience of practitioners. Non-standard (including modern and innovative) therapies are introduced and monitored after obtaining a consent from the Bioethical Committee, when required. There are patients on charity therapies, patients treated within so called drug programmes and patients included within international clinical trials.

Rehabilitation services

Specialized team and specialized equipment (gait analysis equipment, artromot, treadmill etc) are available, with therapy usually performed in the Rehabilitation Department and Out-patient Clinic. However, rehabilitation services are also performed (if required) during the hospitalization in the Department of Inborn Errors of Metabolism and Paediatrics. Physiotherapeutic procedures are done, when needed.

Palliative care services

In IMC there is a multidisciplinary commission dealing with newborn babies with congenital birth defects and sets rules for palliative care for each child individually. The oncologists and anesthesiologists (24-hours/7 day) in IMC support all clinicians in terms of palliative care services. Cooperation with hospice for children is undertaken, when needed.