RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164073383
T1 Hyperprolinemia
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164073383
RD 2024/04/24
AB Inborn  error  of  metabolism  resulting  from  a  defect  in  renal  tubular  amino  acid  transport  leading  to  abnormal  urinary  excretion  of  glycine,  proline,  and  hydroxyproline.  The  clinical  features  of  this  medical  condition  are  seizures  and  variable  intellectual  disabilities.  The  presence  of  lactic  academia,  particularly  in  Type  II  Hyperprolinemia  must  be  considered.