RT Book, Section A1 Hay, Jr, William W. A1 Levin, Myron J. A1 Deterding, Robin R. A1 Abzug, Mark J. SR Print(0) ID 1145454291 T1 Carboxylase Deficiency 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=1145454291 RD 2024/10/14 AB Isolated pyruvate carboxylase deficiency presents with lactic acidosis and hyperammonemia in early infancyEven if biochemically stabilized, the neurologic outcome is dismalIsolated 3-methylcrotonyl-CoA carboxylase deficiencyFrequently recognized on newborn screening using acylcarnitine analysisUsually a benign condition that sometimes causes symptoms of acidosis and neurologic depression