Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria.
Methylmalonic acidemia with associated homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level. Its effects on recovery from surgically induced organ ischemia are largely unknown. We report the successful closure of a nonrestrictive ventricular septal defect by following a normothermic strategy combined with ample metabolic substrate supply.
Heinemann
M K
MK
Department of Thoracic, Cardiac, and Vascular Surgery, Tübingen University Hospital, Germany. heinemann@uni-mainz.de
Tomaske
M
M
Trefz
F K
FK
Bosk
A
A
Baden
W
W
Ziemer
G
G
D000592:Amino Acid Metabolism, Inborn Errors / Q000601:surgery* / Q000652:urine; D019917:Blood Vessel Prosthesis Implantation; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000601:surgery* / Q000652:urine; D006712:Homocystinuria / Q000601:surgery* / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008764:Methylmalonic Acid / Q000652:urine*; D019990:Perioperative Care
D008764:Methylmalonic Acid