TY  - CHAP
M1  - Book, Section
TI  - Acidemia, Glutaric Type I
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  - 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  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1145453250
ER  -