Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

@article{Christensen2004CorrelationOG,
  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},
  year={2004},
  volume={27},
  pages={861-868}
}
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
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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.
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TLDR
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.
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