Significance of bound glutarate in the diagnosis of glutaric aciduria type I
Copyright policy )Significance of bound glutarate in the diagnosis of glutaric aciduria type I
Glutaric aciduria type I (GA-I) (McKusick 231670) is an autosomal recessive disorder caused by glutaryl-CoA dehydro genase (GD) deficiency. The diagnosis of GA-I is determined by organic acid analysis of urine and is confirmed by measuring the enzyme activity in cultured skin fibroblasts or leukocytes. However, as new cases have been reported, they have revealed the difficulty of establishing the diagnosis by analysis of organic acids in urine alone, since glutaric acid excretion is not constant (Hellstrom 1982; Lipkin et al 1988; Bergman et al 1989; Haworth et al 1991)
- Hospital Materno-Infantil Spain
- Rigshospitalet Denmark
- Duke University United States
- Duke University Hospital United States
- Hospital Sant Joan de Déu Barcelona Spain
Oxidoreductases Acting on CH-CH Group Donors, Glutaryl-CoA Dehydrogenase, Infant, Spectrometry, Mass, Fast Atom Bombardment, Gas Chromatography-Mass Spectrometry, Glutarates, Carnitine, Child, Preschool, Humans, Child, Oxidoreductases, Amino Acid Metabolism, Inborn Errors
Oxidoreductases Acting on CH-CH Group Donors, Glutaryl-CoA Dehydrogenase, Infant, Spectrometry, Mass, Fast Atom Bombardment, Gas Chromatography-Mass Spectrometry, Glutarates, Carnitine, Child, Preschool, Humans, Child, Oxidoreductases, Amino Acid Metabolism, Inborn Errors
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