Abstract
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare metabolic disorder, and commonly now part of newborn screening programs. Those diagnosed at birth are now progressing from childhood to adulthood. The study aim was to explore young people’s experiences of living with MCADD and managing their condition. A descriptive qualitative study design involving semi-structured interviews with 12 participants aged 10 to 15 years, recruited from one regional pediatric metabolic disorder service in England. Data were analyzed using thematic analysis. The two major themes were “Eating for energy” and “Growing into a self-management role.” Self-monitoring and self-management skills had been nurtured from early childhood by parents and healthcare providers. Young people’s anxieties concerned having to maintain adequate energy input to stay safe and the associated burden of responsibility. Growing up with MCADD presents specific challenges. Self-management and ongoing support are important for dealing with those challenges.
Highlights
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of fatty acid oxidation
The incidence is highest in populations of Northern Europe and affects between 1 in 9,000 to 1 in 10,000 newborns in the United Kingdom (Grosse et al, 2006; Oerton et al, 2011). In this rare metabolic condition, medium chain fatty acids are improperly metabolized and accumulate in the blood which can lead to metabolic crisis which presents clinically as hypoglycemia and lethargy
Over the past decade, screening for MCADD has been embedded into newborn screening programs in the United States of America, Canada, and many European countries including the UK (Jameson & Walter, 2019; Therrell et al, 2015)
Summary
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of fatty acid oxidation. The incidence is highest in populations of Northern Europe and affects between 1 in 9,000 to 1 in 10,000 newborns in the United Kingdom (Grosse et al, 2006; Oerton et al, 2011) In this rare metabolic condition, medium chain fatty acids are improperly metabolized and accumulate in the blood which can lead to metabolic crisis which presents clinically as hypoglycemia and lethargy. Metabolic requirements increase with greater likelihood of metabolic crisis This necessitates specific management involving an emergency dietary/feeding regime of glucose polymer feeds every 2 to 3 hours with age-appropriate carbohydrate content (British Inherited Metabolic Diseases Group, 2016)
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