TY  - CHAP
M1  - Book, Section
TI  - Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)
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  - Typical  presentation  is  infantile  encephalopathyDue  to  deficiency  of  the  enzyme  that  catalyzes  the  oxidative  decarboxylation  of  the  branched-chain  keto  acid  derivatives  of  leucine,  isoleucine,  and  valineAccumulated  keto  acids  of  leucine  and  isoleucine  cause  the  characteristic  sweet  odorOnly  leucine  and  its  corresponding  keto  acid  have  been  implicated  in  causing  central  nervous  system  (CNS)  dysfunctionMany  variants  of  this  disorder  have  been  described,  including  mild,  intermittent,  and  thiamine-dependent  formsAll  are  autosomal  recessive  traits  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1145456999
ER  -