D-2-Hydroxyglutaric Aciduria

William L. Nyhan; Bonnie Holmes; G. Diane Shelton; Cornelis Jakobs; Cynthia J.R. Curry; Carol Vance; Marinus Duran; Lawrence Sweetman

doi:10.1177/088307389501000216

D-2-Hydroxyglutaric Aciduria

William L. Nyhan, Bonnie Holmes, G. Diane Shelton, Cornelis Jakobs, Cynthia J.R. Curry, Carol Vance, Marinus Duran, Lawrence Sweetman

Research output: Contribution to journal › Article › peer-review

49 Scopus citations

Abstract

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).

Original language	English (US)
Pages (from-to)	137-142
Number of pages	6
Journal	Journal of child neurology
Volume	10
Issue number	2
DOIs	https://doi.org/10.1177/088307389501000216
State	Published - Mar 1995
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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abstract = "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).",

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T1 - D-2-Hydroxyglutaric Aciduria

AU - Nyhan, William L.

AU - Holmes, Bonnie

AU - Shelton, G. Diane

AU - Jakobs, Cornelis

AU - Curry, Cynthia J.R.

AU - Vance, Carol

AU - Duran, Marinus

AU - Sweetman, Lawrence

PY - 1995/3

Y1 - 1995/3

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AB - 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).

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D-2-Hydroxyglutaric Aciduria

Abstract

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