TY - CHAP M1 - Book, Section TI - Acidemia, Propionic & Methylmalonic A1 - Hay, Jr, William W. A1 - Levin, Myron J. A1 - Deterding, Robin R. A1 - Abzug, Mark J. PY - 2017 T2 - Quick Medical Diagnosis & Treatment Pediatrics AB - Propionic acidemia is due to a defect in the biotin-containing enzyme propionyl-CoA carboxylaseMethylmalonic aciduria is due to a defect in methylmalonyl-CoA mutase, in either the mutase apoenzyme or in defects of its cofactor, adenosyl-B12 coenzymeSome disorders of intracellular vitamin B12 metabolism affect only the synthesis of adenosyl-B12 (Cbl A, B, or D), whereas in others (Cbl C, D, F, J, X), the synthesis of methyl-B12 is also blocked, and hence homocysteine is also elevated in blood in addition to methylmalonic acidAll forms of propionic and methylmalonic acidemia are autosomal recessive traits (except for X-linked Cbl X) and can be diagnosed in utero SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1145453259 ER -