The Metabolism and Newborn Screening clinical program is primarily a consulting service, although patients with certain inborn errors of metabolism (IEM) are the sole responsibility of Metabolics. There are approximately 200 inpatient consults per year.
The Metabolism and Newborn Screening clinical program sees patients for a range of metabolic conditions. There are seven half-day clinics per week as well as walk-in availability for urgent cases. Approximately 1,000 patients are seen per year.
The Newborn Screening Retrieval Centre locates and facilitates the diagnosis of screen positive babies within the Champlain Local Health Integration Network (LHIN) as well as northern and western areas of Ontario. Approximately 200 babies are retrieved and seen every year through this program.
Clinical Problems and Diseases Evaluated and Followed
- Diagnosis and management of inborn errors of metabolism (IEM)
- Diagnosis of patients with possible metabolics disorders including Autism, developmental delay, neurodegenerative disorders, encephalopathy, leukodystrophies and neuromuscular disorders
- Locate and facilitate the diagnosis of screen positive babies through the Newborn Retrieval Centre including genetic errors of metabolism, endocrine disorders, hemoglobinopathies, cystic fibrosis and severe combined immune deficiencies