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Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult

BACKGROUND: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid oxidation. Incidence at birth is estimated at 1:250 000, but type III presents in adults. It is characterized by nonspecific symptoms but if undiagnosed may cause ketoacidosis and r...

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Detalles Bibliográficos
Autores principales: Subbu, Karthik, Hildebrandt, Clara, Caraccio, Donald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837082/
https://www.ncbi.nlm.nih.gov/pubmed/36654993
http://dx.doi.org/10.1016/j.aace.2022.11.004