CblC/D defect combined with haemodynamically highly relevant VSD.
An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
Tomaske
M
M
Department of Pediatrics I, University Hospital, Tübingen, Germany. Maren.Tomaske@med.uni-tuebingen.de
Bosk
A
A
Heinemann
M K
MK
Sieverding
L
L
Baumgartner
E R
ER
Fowler
B
B
Trefz
F K
FK
D005260:Female; D005492:Folic Acid / Q000008:administration & dosage; D006345:Heart Septal Defects, Ventricular / Q000150:complications* / Q000175:diagnosis / Q000601:surgery*; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D006879:Hydroxocobalamin / Q000008:administration & dosage; D007231:Infant, Newborn; D019344:Lactic Acid / Q000097:blood; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D008715:Methionine / Q000097:blood; D008764:Methylmalonic Acid / Q000652:urine*
D006710:Homocysteine; D019344:Lactic Acid; D008764:Methylmalonic Acid; D005492:Folic Acid; D008715:Methionine; D006879:Hydroxocobalamin