RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164078608
T1 Methylmalonic Acidemia (MMA)
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=1164078608
RD 2024/04/24
AB It  is  a  heterogeneous  inborn  error  of  metabolism  affecting  amino  acid  metabolism,  leading  to  metabolic  acidosis  and  accumulation  of  methylmalonic  acid  (MMA)  and  its  by-products.  The  onset  of  the  disease  is  during  infancy  after  a  normal  newborn  period.  Clinically,  it  is  characterized  by  seizures  and  stroke.  The  symptoms  begins  when  the  infant  is  fed  with  protein,  which  causes  progressive  encephalopathy,  developmental  delay,  failure  to  thrive,  lethargy,  recurrent  yeast  infections,  severe  vomiting,  and  dehydration.