RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58070458
T1 Familial Hyperlysinemia
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58070458
RD 2022/05/28
AB The  enzyme  deficiencies  of  α-aminoadipic  semialdehyde  dehydrogenase  and  the  saccharopine  dehydrogenases  have  been  associated  with  increased  serum  levels  of  l-lysine.  The  clinical  presentation  is  very  variable  and  may  include  developmental  delay,  hypotonia,  lethargy  recurrent  emesis,  and  diarrhea.