Gene: GCDH

Alternate names for this Gene: ACAD5|GCD

Gene Summary: The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: glutaryl-CoA dehydrogenase

Type of Gene: protein-coding

rs11085824 in GCDH gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11085824 in GCDH gene and Finding of Mean Corpuscular Hemoglobin PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1057516344 in GCDH gene and Glutaric aciduria, type 1 PMID 11073722 2000 Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

PMID 15505400 2004 Glutaric aciduria type I: outcome in the Republic of Ireland.

PMID 15505393 2004 Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

PMID 10699052 2000 Mutation analysis in glutaric aciduria type I.

PMID 16377226 2006 Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.

PMID 12473778 2002 Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

PMID 25255367 2015 Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.

PMID 24332224 2014 Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

PMID 27629047 2016 Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

PMID 20084589 2010 Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.

PMID 8900227 1996 Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

PMID 8900228 1996 Glutaric aciduria type I in the Arab and Jewish communities in Israel.

PMID 18775954 2008 Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

PMID 9600243 1998 The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

PMID 8541831 1995 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

PMID 24973495 2014 Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

PMID 14707522 2003 Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

PMID 20629163 2010 Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.

PMID 15573311 2005 [In utero macrocephaly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation].

PMID 17188916 2007 Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.

PMID 20732827 2011 Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.

PMID 9711871 1998 Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

PMID 16641220 2006 Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

PMID 19433437 2009 Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

PMID 10960496 2000 Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

PMID 12199454 2001 Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report.

PMID 23395213 2013 Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

PMID 30570710 2019 Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

PMID 11015709 2000 Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.

PMID 22728054 2012 Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

PMID 9266361 1997 Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

PMID 10066389 1999 Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.

PMID 29665094 2018 Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

PMID 12872844 2003 Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.

PMID 18683078 2008 Glutaric aciduria type I: outcome following detection by newborn screening.

PMID 10384381 1999 Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

PMID 21176883 2011 One of a pair of sisters with the same mutations (M339V/S305L) lacking residual activity was severely retarded, whereas the older girl remains asymptomatic at 22 years of age, indicating that genotype does not necessarily predict GA1 phenotype.

PMID 9856558 1998 Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 28062662 2017 Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

PMID 23884036 2013 Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.

PMID 21176883 2011 Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

PMID 20514322 2010 Glutaric aciduria type 1 in Korea: report of two novel mutations.

PMID 28438223 2017 Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

PMID 27397597 2016 The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

PMID 20978942 2011 Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

PMID 27243974 2016 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 21811973 2011 [Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].

PMID 28411331 2018 Glutaric Acidemia Type 1: A Case of Infantile Stroke.

PMID 21031586 2010 Use of guidelines improves the neurological outcome in glutaric aciduria type I.

PMID 27896087 2014 Glutaric Aciduria type I and acute renal failure - Coincidence or causality?

PMID 24973495 2014 Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I.

PMID 27476540 2017 Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.

PMID 15954035 2005 [Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis].

PMID 25204480 2014 Molecular determination of glutaric aciduria type I in individuals from southwest Iran.

PMID 26071121 2016 Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.

PMID 11058907 2000 Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 18285246 2008 Early detection of glutaric aciduria type I by newborn screening in Taiwan.

PMID 10649503 2000 Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.

PMID 23104440 2013 Promising outcomes in glutaric aciduria type I patients detected by newborn screening.

PMID 18459892 2007 Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.

PMID 26656312 2016 Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

PMID 25762492 2015 Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.

PMID 19433275 2009 Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

PMID 27351573 2016 Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.

PMID 27672653 2019 Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.

PMID 16377226 2006 Responsiveness to riboflavin in our patient has been compared with two other patients with glutaric aciduria type 1 and minimal residual GCDH activity, one with homozygosity for the R257Q mutation and one with heterozygosity for the G354S mutation and a novel G156V mutation.

PMID 23225040 2012 [Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].

PMID 17642054 2007 [Glutaric aciduria type I with a low-excretion biochemical phenotype associated to a new mutation].

PMID 20836999 2010 Following accumulation of acylcarnitines C5DC and C4, of 3-hydroxyglutaric acid and isobutyrylglycine in body fluids, sequence analysis in the GCDH gene revealed homozygosity for a missense mutation in exon 6, c.482G>A, p.Arg161Gln, which had been reported in GA1 before.

PMID 26593172 2015 Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

PMID 28781846 2017 Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.

PMID 28302372 2017 Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.

PMID 20960650 2008 Gene symbol: GCDH. Disease: Glutaricacidaemia I.

PMID 16488172 2006 Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I.

PMID 28389991 2017 Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

rs11085824 in GCDH gene and Mean Corpuscular Volume (result) PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3745647 in GCDH gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11085824 in GCDH gene and Red Blood Cell Count measurement PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3745647 in GCDH gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.