This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Baker, N. S. Articles by Herndon, S. P. Search for Related Content PubMed PubMed Citation Articles by Baker, N. S. Articles by Herndon, S. P. Social Bookmarking                   What's this?

D-2-Hydroxyglutaric Aciduria: Hypotonia, Cortical Blindness, Seizures, Cardiomyopathy, and Cylindrical Spirals in Skeletal Muscle

Department of Neurology, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, WA, Department of Pediatrics University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, WA

Harvey B. Sarnat, MD

Department of Neurology, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, WA, Department of Pediatrics University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, WA

Rhona M. Jack, PhD

Biochemical Genetics University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, WA

Kathleen Patterson, MD

Dennis W. Shaw, MD

Department of Radiology, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, WA

S. Paul Herndon, MD

Department of Pediatrics University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, WA

An infant girl was demonstrated to have D-2-hydroxyglutaric aciduria, the fifth case described and the first with muscle biopsy of this rare organic aciduria that differs clinically and genetically from the more common L-2-hydroxyglutaric aciduria. Her clinical features included mildly dysmorphic facies, developmental delay, generalized hypotonia, myoclonic seizures, cortical blindness, and dilated cardiomyopathy requiring treatment. Muscle biopsy demonstrated only excessive glycogen histochemically, but ultrastructural examination revealed subsarcolemmal cylindrical spirals and normal mitochondria. Because of the metabolism of D-2-hydroxyglutaric aciduria, we regard valproic acid as contraindicated in the treatment of epilepsy in this disease. (J Child Neurol 1997;12:31-36).

Journal of Child Neurology, Vol. 12, No. 1, 31-36 (1997)
DOI: 10.1177/088307389701200105


CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				W E Owens and M S Okun Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria J. Neurol. Neurosurg. Psychiatry, September 1, 2004; 75(9): 1362 - 1363. [Full Text] [PDF]

				O. Eeg-Olofsson, Wei Wei Zhang, Y. Olsson, S. Jagell, and L. Hagenfeldt D-2-Hydroxyglutaric Aciduria With Cerebral, Vascular, and Muscular Abnormalities in a 14-Year-Old Boy J Child Neurol, July 1, 2000; 15(7): 488 - 492. [Abstract] [PDF]