RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145453250
T1 Acidemia, Glutaric Type I
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=1145453250
RD 2024/04/19
AB Suspect  in  children  with  acute  basal  ganglia  necrosis,  macrocrania  with  subdural  bleeds,  and  acute  or  progressive  dystoniaPresymptomatic  diagnosis  by  newborn  screening  and  treatment  reduces  the  incidence  of  acute  encephalopathic  crisesCaused  by  deficiency  of  glutaryl-CoA  dehydrogenasePatients  have  frontotemporal  atrophy  with  enlarged  sylvian  fissures  and  macrocephalySudden  or  chronic  neuronal  degeneration  in  the  caudate  and  putamen  causes  an  extrapyramidal  movement  disorder  in  childhood  with  dystonia  and  athetosis