Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

  title={Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency},
  author={Ernst Christensen and Antonia Ribes and Bego{\~n}a Merinero and Johannes Zschocke},
  journal={Journal of Inherited Metabolic Disease},
Summary: We have investigated the correlation between genotype and phenotype in a large number of patients with glutaric aciduria type I (GA I). The deficiency of glutaryl-CoA dehydrogenase has been confirmed in the Rigshospitalet's laboratory in 215 patients since 1975. Most of the patients were of European ancestry. Complete absence of enzyme activity was found in more than half of the patients, while 34% of patients had a residual activity up to 5% and a few patients had a residual activity… 
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
This study investigated 18 Egyptian patients diagnosed with GAI and showed a mix of conclusive and inconclusive genotype-phenotype correlations among the authors' patient’s cohort and suggests the usefulness of using various sophisticated computational analysis to be utilized for future variant classifications in the genetic clinics.
Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations
Two cases of GA I confirmed with mutational analysis are presented, rather atypical clinical presentations with genetic characteristics for the first time in Korea, which might suggest different genetic spectrum of Korean GA I patients.
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
The findings suggest that GA1 is not uncommon organic acidemia disease in Egypt; therefore, there is a need for supporting neonatal screening programs in Egypt.
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.


Mutation analysis in glutaric aciduria type I
A rapid and efficient denaturing gradient gel electrophoresis method for the identification of mutations in the glutaryl-CoA dehydrogenase (GCDH) gene that may be used for the molecular diagnosis of GA1 in a routine setting is presented.
Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct
Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion
Three families in which members had symptoms indicating glutaryl-CoA dehydrogenase deficiency but excreted no or very little free glutarate are reported, and results of mutation analyses are presented and compared with the clinical and biochemical data.
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I
The entire sequences of introns 1, 2, 3, 6, 7, 8 and 9 as well as 21 different mutations in 20 patients with GAI, corresponding to 38 out of 40 alleles are reported.
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
Two siblings who were found to have deficiency of glutaryl-CoA dehydrogenase were identified by the presence of large amounts of 3-hydroxyglutaric acid in the urine, and both patients were finding to be compound heterozygotes for R227P, which changed an arginine to a proline, and E365K, which change a glutamate to a lysine.
Glutaryl‐CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations
There is little if any relationship between genotype and clinical phenotype, but some mutations, even when heterozygous, seem especially common in patients with normal or only minimally elevated urine glutaric acid.
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.
Reduced activity in GCD encoded by the A421V mutation in the Amish may be due to impaired association of enzyme subunits, as expected from pedigree analysis.
3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing
Three patients with ketosis had increased excretion of 3-hydroxyglutarate, an indicator of glutaryl-CoA dehydrogenase deficiency (GDHD), which normalized when the patients were nonketotic, which is a potential confounder in the diagnosis of GDHD.
Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype
This data indicates that children born with atypical BMIs are at higher risk of developing type 2 diabetes than those born with normal BMIs and these findings are likely to be influenced by the maternal and paternal immune systems.
Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.
  • E. Christensen
  • Biology, Medicine
    Clinica chimica acta; international journal of clinical chemistry
  • 1983