TY - CHAP M1 - Book, Section TI - Carboxylase Deficiency 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 - 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 SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/13 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1145454291 ER -