RT Book, Section
A1 Goodman, Stephen I.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6725328
T1 Chapter 140. Disorders of Metabolism of Lysine, Hydroxylysine, and Related  Compounds
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6725328
RD 2023/03/28
AB Deficiency  of  the  bifunctional  protein  alpha-aminoadipic  semialdehyde  synthase  causes  familial  hyperlysinemia.  The  clinical  significance  of  this  enzyme  deficiency  is  controversial.  Psychomotor  retardation  has  been  reported  in  many,  but  not  all,  affected  individuals.