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A Systematic Review on Diagnosis and Management Guidelines for Fatty Acid Oxidation Disorders

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A Systematic Review on Diagnosis and Management Guidelines for Fatty Acid Oxidation Disorders

Background: 

Newborn screening (NBS) and Inherited Metabolic Disorders (IMD):

•NBS facilitates early diagnosis of many rare IMD including fatty acid oxidation disorders
•Clinical benefits and better outcomes for affected individuals
•Two fatty acid oxidation disorders that are NBS targets:
•Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
•Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
•NBS has uncovered a broader spectrum of disease severity for both:
•Milder cases that may have otherwise remained undiagnosed
•Severe cases that may have resulted in premature death
•This has raised questions about appropriate management given that milder cases may remain asymptomatic compared to the classical or severe clinically presenting cases 
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