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Compound heterozygosity in the glutaryl‐CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion
Author(s) -
Christensen E.,
Ribes A.,
Busquets C.,
Pineda M.,
Duran M.,
PollThe B. T.,
Greenberg C. R.,
Leffers H.,
Schwartz M.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005390214391
Subject(s) - medicine , genetics , biology
Glutaryl-CoA dehydrogenase (GDH, EC 1.3.99.7) deficiency (glutaric aciduria type 1 (GA1), McKusick 231670) is an autosomal recessive disease affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan (Goodman and Frerman 1995). Patients with this disorder usually excrete high amounts of glutarate in the urine. However, patients excreting low amounts have also been reported. No correlation has been found between glutarate excretion, residual glutaryl-CoA dehydrogenase activity and severity of symptoms. The gene for glutaryl-CoA dehydrogenase has now been cloned and several mutations have been described (Goodman et al 1995). We report three families in which members had symptoms indicating glutaryl-CoA dehydrogenase deficiency but excreted no or very little free glutarate. Results of mutation analyses are presented and compared with the clinical and biochemical data.