TY - CHAP M1 - Book, Section TI - The Organic Acidemias A1 - Marsden, Deborah A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Organic acidemias are disorders of intermediary metabolism of one or more amino acid constituents of protein, due to a deficiency of an enzyme in the respective catabolic pathway, or an essential enzyme cofactor.The accumulation of the toxic intermediates (organic acids) can result in life-threatening organ damage, primarily of the brain, liver, and kidneys.There is a phenotypic spectrum, ranging from severe neonatal presentation to later onset of milder symptoms in childhood or adulthood. Clinical phenotype depends largely on the amount of residual enzyme activity, determined by the mutations.Hereditary basis:Autosomal recessiveDifferential diagnosis:SepsisDrug or chemical intoxicationMitochondrial disease SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102703470 ER -