PMID: 7546009May 1, 1995Paper

Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy

Pediatric Neurology
M I ShevellC R Scriver

Abstract

Glutaric acidemia type II is associated with neonatal hypoketotic hypoglycemia, metabolic acidosis, profound hypotonia, progressive cardiomyopathy, and early death. Deficiency of either electron transfer flavoprotein or electron transport flavoprotein:ubiquinone oxidoreductase leads to intramitochondrial accumulation of metabolites of compounds oxidized by enzymes that transfer electrons to flavoprotein. No detailed results of antemortem neuroimaging or magnetic resonance spectroscopy have been described previously. We investigated a patient with typical neonatal onset glutaric acidemia type II without obvious dysmorphogenesis or renal malformations. Cranial tomographic scan revealed hypoplastic temporal lobes and marked widening of the sylvian fissures ("bat-wing" appearance). Cranial magnetic resonance imaging documented underdeveloped frontal and temporal lobes with delayed myelination and hypoplasia of the corpus callosum. 31P-Magnetic resonance spectroscopy of muscle was grossly abnormal with a very low energy state consistent with mitochondrial dysfunction. 1H-Magnetic resonance spectroscopy of brain revealed elevated intracerebral lactate concentration and abnormally high choline/creatine ratio suggestive of dysmyelinati...Continue Reading

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Citations

Feb 27, 2004·Current Neurology and Neuroscience Reports·Andrea Gropman
Mar 19, 1999·Pediatric Neurology·J TakanashiY Kohno
Feb 16, 2002·Topics in Magnetic Resonance Imaging : TMRI·Eric N Faerber, Tina Young Poussaint
Sep 29, 2001·Journal of Child Neurology·P B KangE M Kaye
Jan 25, 2005·BJOG : an International Journal of Obstetrics and Gynaecology·F J SpronsenJ J H M Erwich

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