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Related Concept Videos

Pyruvate Oxidation01:15

Pyruvate Oxidation

After glycolysis, the charged pyruvate molecules enter the mitochondria via active transport and undergo three enzymatic reactions. These reactions ensure that pyruvate can enter the next metabolic pathway so that energy stored in the pyruvate molecules can be harnessed by the cells.
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Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Olivier Fortin1, Kelsey Christoffel1, Abdullah B Shoaib1

  • 1From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.

Neurology
|August 5, 2024
PubMed
Summary
This summary is machine-generated.

Pyruvate dehydrogenase complex deficiency (PDCD) fetal brain MRI shows corpus callosum dysgenesis, reduced volumes, and cystic lesions. Ganglionic eminence cysts in the second trimester may be an early diagnostic marker for PDCD.

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Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic Disorders

Background:

  • Pyruvate dehydrogenase complex deficiency (PDCD) is a genetic mitochondrial metabolism disorder.
  • Neonatal brain imaging in PDCD is documented, but fetal MRI findings are less understood.
  • PDCD is caused by pathogenic variants in genes like PDHA1.

Purpose of the Study:

  • To characterize fetal brain MRI findings in PDCD.
  • To identify potential prenatal diagnostic markers for PDCD.
  • To correlate imaging findings with genetic testing results.

Main Methods:

  • Retrospective review of 10 fetuses diagnosed with PDCD and prior fetal MRI.
  • Analysis of fetal and neonatal imaging, medical records, and genetic testing data.
  • Neuroradiologist review of MRI scans for consistent findings.

Main Results:

  • Common findings included corpus callosum dysgenesis (8/10), abnormal gyration (6/10), reduced brain volumes (10/10), and cystic lesions (9/10).
  • Second-trimester MRIs revealed ganglionic eminence (GE) cysts in 6 fetuses, absent in third-trimester scans.
  • Other findings included intraventricular hemorrhages and midbrain malformations.

Conclusions:

  • Fetal MRI findings in PDCD resemble neonatal findings but can be subtle early in gestation.
  • GE cysts in the second trimester may serve as an early diagnostic marker for PDCD.
  • Early prenatal diagnosis via fetal MRI can guide genetic counseling and care planning.