Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment. Issue 1 (27th October 2022)

• Record Type: Journal Article
• Authors: Mason, Emily; Hindmarch, Charles C. T.; Dunham‐Snary, Kimberly J.
• Is Part Of: Endocrinology, diabetes & metabolism. Volume 6:Issue 1(2023)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-10-27
• Subjects: dietary management -- fatty acids -- medium‐chain Acyl‐CoA dehydrogenase -- metabolic myopathy -- β‐Oxidation; Endocrinology -- Periodicals; Diabetes -- Periodicals; Metabolism -- Periodicals; 616.4
• DOI: 10.1002/edm2.385
• Languages: English
• ISSNs: 2398-9238

Abstract

Abstract: Introduction: Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of β‐oxidation. Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death. Prognosis for MCADD patients is highly promising once a diagnosis has been established, though management strategies may vary depending on the severity of illness and the presence of comorbidities. Methods and Results: Given the rapid developments in the world of gene therapy and implementation of newborn screening for inherited metabolic disorders, the provision of concise and contemporary knowledge of MCADD is essential for clinicians to effectively manage patients. Thus, this review aims to consolidate current information for physicians on the pathogenesis, diagnostic tools, and treatment options for MCADD patients. Conclusion: MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. Abstract : MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. In this review, we discuss the genetics, pathogenesis, clinical presentation, diagnosis, and treatments for Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD), consolidating contemporary knowledge on MCADD to provide clinicians with adequate background and information to better understand and manage the illness in their patients.