D-2-hydroxyglutaric aciduria.
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.
Nyhan
W L
WL
Department of Pediatrics, University of California San Diego, La Jolla, USA.
Shelton
G D
GD
Jakobs
C
C
Holmes
B
B
Bowe
C
C
Curry
C J
CJ
Vance
C
C
Duran
M
M
Sweetman
L
L
D000818:Animals; D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics* / Q000652:urine / Q000662:veterinary; D002648:Child; D002675:Child, Preschool; D004283:Dog Diseases / Q000175:diagnosis / Q000235:genetics / Q000652:urine; D004285:Dogs; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000652:urine / Q000662:veterinary; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics* / Q000652:urine / Q000662:veterinary; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013237:Stereoisomerism
D005977:Glutarates; C019417:alpha-hydroxyglutarate