In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency
DJ Zand, EM Simon, SB Pulitzer… - American journal …, 2003 - Am Soc Neuroradiology
American journal of neuroradiology, 2003•Am Soc Neuroradiology
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 …
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 …
Summary
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.
American Journal of Neuroradiology