RT Book, Section A1 Hay, Jr, William W. A1 Levin, Myron J. A1 Deterding, Robin R. A1 Abzug, Mark J. SR Print(0) ID 1145453259 T1 Acidemia, Propionic & Methylmalonic T2 Quick Medical Diagnosis & Treatment Pediatrics YR 2017 FD 2017 PB McGraw-Hill Education PP New York, NY SN 9781264257614 LK accesspediatrics.mhmedical.com/content.aspx?aid=1145453259 RD 2024/03/29 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