Adult onset leukodystrophy
Gene: GCDH
GCDH variants are associated with Glutaricaciduria, type I (OMIM:231670) and as definitive Gen2Phen gene for the same condition. Although OMIM:231670 usually manifests in infancy, four unrelated cases, including white matter involvement, have been reported with an age of onset of 16 to 35 years (15985591;12473778; https://doi.org/10.1002/mds.10442).Created: 8 Aug 2023, 3:47 p.m. | Last Modified: 8 Aug 2023, 3:47 p.m.
Panel Version: 3.16
Comment on publications: Publication not in PUBMED: https://doi.org/10.1002/mds.10442 "Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl"
Emilio Fernández-Álvarez MD, PhD, Angeles García-Cazorla MD, Anna Sans MD, Cristina Boix PhD, María Antonia Vilaseca PhD, Christianne Busquets PhD, Antonia Ribes PhD
First published: 01 April 2003Created: 8 Aug 2023, 3:38 p.m. | Last Modified: 8 Aug 2023, 3:38 p.m.
Panel Version: 3.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, OMIM:231670
Publications
Two unrelated individuals reported with late-onset neurological disease including leukodystrophy. Note typical GA Type I has onset before the age of 2 years, and leukodystrophy is not a prominent feature.
Sources: Expert listCreated: 21 Jun 2020, 6:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric aciduria, type I 231670
Publications
Tag Q3_23_promote_green tag was added to gene: GCDH. Tag Q3_23_MOI tag was added to gene: GCDH.
Publications for gene: GCDH were set to 15985591
Phenotypes for gene: GCDH were changed from Glutaric aciduria, type I 231670 to Glutaricaciduria, type I, OMIM:231670; glutaryl-CoA dehydrogenase deficiency, MONDO:0009281
Gene: gcdh has been classified as Amber List (Moderate Evidence).
gene: GCDH was added gene: GCDH was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 15985591 Phenotypes for gene: GCDH were set to Glutaric aciduria, type I 231670 Review for gene: GCDH was set to AMBER