Inborn errors of metabolism in newcomer and refugee populations in Ontario, CA

Abstract

Inborn errors of metabolism (IEM) are a heterogenous group of rare, inherited disorders that impair the biochemical processes involved in metabolism. Many are treated with various restrictive diets in early infancy, prior to the appearance of symptoms to improve the overall outcomes of the affected individuals. Identification of individuals at a risk of developing metabolic disorders through newborn screening (NBS) programs and the subsequent early diagnosis and treatment are an invaluable aspect of healthcare in Canada. Incorporation of Canada’s expanding population of refugees and new immigrants presents with potential challenges and changes. Without the availability of NBS programs in many countries contributing to the refugee influx in Canada, it may be difficult to identify patients who are affected with these rare conditions. This article discusses: 1) the utility of newborn screening and diagnosis of metabolic diseases in immigrant and refugee populations, with complex medical presentations, and 2) a recent diagnosis of succinic semialdehyde dehydrogenase deficiency (an IEM) in a refugee child past the age limit of NBS. An increasingly complicated and diverse refugee population requires a need for revision of existing healthcare practices pertaining to the diagnosis of rare diseases.

Inherited Pediatric Neurotransmitter Disorders: Case Studies and Long-Term Outcomes

“…Case 2 is an 18-year-old girl who was initially diagnosed with CP at the age of 2 years. 10 The family immigrated to Canada, and she presented to the clinic at the age of 13 years with atypical signs for CP. She was referred to the neurometabolic clinic owing to an abnormal urine organic acids profile, most notably elevated 4-hydroxybutyric acid, with a suspicion for possible SSADH deficiency.…”