Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) can be detected through newborn screening with tandem mass spectrometry. We report a patient who died as a result of severe brain injury due to hypoglycemia. Newborn screening was normal. Postmortem enzyme analysis and molecular testing confirmed the diagnosis of VLCADD.
Ficicioglu
Can
C
Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. Ficicioglu@email.chop.edu
Coughlin
Curtis R
CR
Bennett
Michael J
MJ
Yudkoff
Marc
M
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D005188:False Negative Reactions; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening; D053719:Tandem Mass Spectrometry
D044942:Acyl-CoA Dehydrogenase, Long-Chain