Mitochondrial disease
Gene: DLD
DLD (dihydrolipoamide dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000091140
EnsemblGeneIds (GRCh37): ENSG00000091140
OMIM: 238331, Gene2Phenotype
DLD is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000091140
EnsemblGeneIds (GRCh37): ENSG00000091140
OMIM: 238331, Gene2Phenotype
DLD is in 12 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
Onset usually in the neonatal period although later onset has been reported. High mortality in infancy and early childhood (in some patients).
DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC).
Multiple individuals reports including in vitro functional analysis.Created: 16 Feb 2022, 1:54 a.m. | Last Modified: 16 Feb 2022, 1:54 a.m.
Panel Version: 0.10992
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydrolipoamide dehydrogenase deficiency MIM#246900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- OMIM
- 238331
- Clinvar variants
- Variants in DLD
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DLD was added gene: DLD was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: DLD was set to Unknown