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Journal of Child Neurology
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What's this?

D-2-Hydroxyglutaric Aciduria

William L. Nyhan, MD, PhD

Department of Pediatrics

G. Diane Shelton, DVM, PhD

Pathology, University of California San Diego, La Jolla

Cornelis Jakobs, PhD

Department of Pediatrics, Free University Hospital, Amsterdam

Bonnie Holmes

Department of Pediatrics

Constance Bowe, MD

Department of Neurology, University of California Davis, Sacramento

Cynthia J.R. Curry, MD

Valley Children's Hospital, Fresno

Carol Vance, MD

Valley Children's Hospital, Fresno

Marinus Duran, PhD

Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands

Lawrence Sweetman, PhD

Biochemical Genetics Laboratory, Los Angeles Children's Hospital, Los Angeles, CA

Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis, and the D and L forms are quantified by chemical ionization with deuterated internal standards. Patients have recently been described who accumulate the D form, and they appear to be quite different from those with the more common L form. Experience is reported with three patients and an animal model with D-2-hydroxyglutaric aciduria. The phenotype appears to include mental retardation, macrocephaly, hypotonia, seizures, and involuntary movements, although neurologic and systemic manifestations of the disorder varied considerably between individual patients, even within the same family. (J Child Neurol 1995;10:137-142).

Journal of Child Neurology, Vol. 10, No. 2, 137-142 (1995)
DOI: 10.1177/088307389501000216
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