Condition: Glutaric aciduria, type 1


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.

rs121434368 in GCDH;SYCE2 gene and Glutaric aciduria, type 1 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 18775954 2008 Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

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

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

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

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

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

PMID 27397597 2016 We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population.

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

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

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

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

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

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

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

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

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

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 11073722 2000 Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

PMID 10699052 2000 Mutation analysis in glutaric aciduria type I.

PMID 22106832 2012 Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

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

PMID 28352331 2017 Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.

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

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

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.

rs121434367 in SYCE2;GCDH gene and Glutaric aciduria, type 1 PMID 8541831 1995 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

PMID 19630565 2009 Genetics, medicine, and the Plain people.

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

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

PMID 1951469 1991 Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

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

PMID 18926513 2008 Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

PMID 10699052 2000 Mutation analysis in glutaric aciduria type I.

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

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

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

PMID 17478444 2007 Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.

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 25256449 2015 Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

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

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 28794906 2017 We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients.

PMID 18775954 2008 We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells.

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

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

PMID 10699052 2000 The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.

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

PMID 27397597 2016 We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population.

PMID 9881681 1998 Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I.

PMID 21912879 2012 Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

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

PMID 18775954 2008 We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells.

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

PMID 16466958 2006 Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD.

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

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

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

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

PMID 15318278 2004 Genetic and biochemical study in a patient with glutaric acidemia type I.

PMID 12210585 2002 Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.

PMID 18411069 2008 Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.

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

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

PMID 17622945 2007 Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

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

PMID 11508549 2000 Atypical and variable clinical presentation of glutaric aciduria type I.

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