D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.
D-2-Hydroxyglutaric aciduria was documented in a newborn who presented with seizures, hypotonia, cortical blindness, a movement disorder, and developmental delay. Her clinical presentation differs from that of patients with L-2-hydroxyglutaric aciduria and a single previously reported patient with D-2-hydroxyglutaric aciduria. Cerebrospinal fluid levels of gamma-aminobutyric acid were elevated, while biogenic amine metabolites were normal. The movement disorder in our patient and in those with L-2-hydroxyglutaric aciduria suggests involvement of the basal ganglia in the disease process. Prenatal diagnosis of an affected fetus was accomplished during a subsequent pregnancy.
Craigen
W J
WJ
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Jakobs
C
C
Sekul
E A
EA
Levy
M L
ML
Gibson
K M
KM
Butler
I J
IJ
Herman
G E
GE
D001480:Basal Ganglia Diseases / Q000235:genetics / Q000652:urine; D001766:Blindness / Q000235:genetics / Q000652:urine; D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000652:urine; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002658:Developmental Disabilities / Q000235:genetics / Q000652:urine; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000652:urine; D005260:Female; D005808:Genes, Recessive; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013036:Spasms, Infantile / Q000235:genetics* / Q000652:urine
D005977:Glutarates; C019417:alpha-hydroxyglutarate