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  • Title: Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.
    Author: Amir N, Elpeleg ON, Shalev RS, Christensen E.
    Journal: J Pediatr; 1989 Jun; 114(6):983-9. PubMed ID: 2723913.
    Abstract:
    Two kindreds with glutaric aciduria type I were investigated. Of 20 family members who underwent neurologic examination and organic acid analysis of urine, 18 had glutaryl-coenzyme A dehydrogenase (GDH) activity determined in cultured skin fibroblasts and 12 had computed tomographic brain scans. Six homozygotes were identified who had undetectable GDH activity and identical biochemical profiles (consisting of glutaric and 3-hydroxyglutaric aciduria, reduced serum carnitine concentrations, and frontotemporal atrophy). Serial computed tomographic brain scans of one homozygous infant demonstrated the sequential postnatal development of this atrophy during 3 years before the development of clinical manifestations. In three of the six homozygotes, including the father in one kindred, there were no clinical manifestations of glutaric aciduria type I. These findings raise questions about the value of prenatal diagnosis in predicting clinical manifestations in homozygous newborn infants.
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