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 2024/04/24
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