In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
We present a unique finding of an elevated level of pyruvate at 2.37 ppm revealed by in vivo MR spectroscopy of a female neonate. Low fibroblast pyruvate dehydrogenase (PDH) complex activity subsequently confirmed a diagnosis of PDH deficiency. Abnormalities of brain development consistent with PDH deficiency were also evident on fetal and postnatal MR images. To our knowledge, this is the first report of pyruvate being shown in vivo in a child and the first report of MR spectroscopy aiding in the diagnosis of inborn error in pyruvate metabolism before confirmation by conventional enzymatic testing. This finding has potential implications for earlier diagnosis in patients with defects in mitochondrial metabolism.
Zand
Dina J
DJ
Division of Human and Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Simon
Erin M
EM
Pulitzer
Steven B
SB
Wang
D J
DJ
Wang
Z J
ZJ
Rorke
Lucy B
LB
Palmieri
Michael
M
Berry
Gerard T
GT
D000015:Abnormalities, Multiple; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008928:Mitochondria / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000175:diagnosis* / Q000378:metabolism; D019289:Pyruvic Acid / Q000378:metabolism*; D016216:Ultrasonography, Prenatal
D019289:Pyruvic Acid