Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity

Authors
Pineda, M Ribes, A Busquets, C Vilaseca, MA Aracil, A Christensen, E
Citation
M. Pineda et al., Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity, DEVELOP MED, 40(12), 1998, pp. 840-842
Citations number
6
Categorie Soggetti
Pediatrics,"Neurosciences & Behavoir
Journal title
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
ISSN journal
00121622 → ACNP
Volume
40
Issue
12
Year of publication
1998
Pages
840 - 842
Database
ISI
SICI code
0012-1622(199812)40:12<840:GATIWH>2.0.ZU;2-#
Abstract
Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3-hydroxyglu tarate and conjugated glutarate excretions. Both siblings have high residua l glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for t wo mutations - R227P and V400M - reported to be disease-causing in patients with glutaric aciduria type I.