RT Book, Section A1 Marsden, Deborah A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102703470 T1 The Organic Acidemias T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessmedicine.mhmedical.com/content.aspx?aid=1102703470 RD 2024/10/07 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