RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145456279
T1 Hyperglycinemia, Nonketotic
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=1145456279
RD 2024/04/24
AB Severely  affected  newborns  present  with  apnea,  hypotonia,  lethargy,  myoclonic  seizures,  and  hiccups  and  develop  severe  mental  and  motor  retardationMildly  affected  children  have  developmental  delay,  hyperactivity,  mild  chorea,  and  seizuresElectroencephalography  (EEG)  shows  burst  suppressionCSF  glycine  is  elevatedAll  forms  of  the  condition  are  autosomal  recessive