Adult onset leukodystrophy

Gene: GCDH

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 5:32 p.m. | Last Modified: 4 May 2024, 5:40 p.m.

Panel Version: 4.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Green List (high evidence)

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 2003

Created: 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

• 15985591
• 12473778
• https://doi.org/10.1002/mds.10442

I don't know

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 list

Created: 21 Jun 2020, 6:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric aciduria, type I 231670

Publications

• 15985591