Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity

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  • Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience

    2012, Molecular Genetics and Metabolism
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    Natural protein consists of 2–9% lysine and 0.6–2% tryptophan and thus l-lysine is considered the quantitatively most important precursor for GA, 3-OH-GA, and glutarylcarnitine [6]. The concentrations of these compounds determined in body fluids of patients and body fluids and tissues of Gcdh-deficient mice, and fruit-eating bats showed a positive correlation to protein and lysine intake [1,7–11]. The initial clinical presentation of affected neonates is non-specific.

  • Primary Disorders of Metabolism and Disturbed Fetal Brain Development

    2009, Clinics in Perinatology
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    Glutaric aciduria type I (OMIM#231,670) is an autosomal-recessive disorder resulting from an inherited defect in the glutaryl-CoA dehydrogenase enzyme (enzyme commission number, EC 1.3.99.7; OMIM∗231,670). Glutaryl-CoA dehydrogenase is involved in the degradative pathway of the amino acids l-tryptophan, l-lysine, and l-hydroxylysine.57 The metabolic block leads to accumulation of glutaric acid, 3- hydroxyglutaric acid, and glutaconic acid in urine and blood and the cerebrospinal fluid.

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Supported in part by a grant (RR-69) from the General Clinical Research Centers Program of the Division of Research Services, National Institutes of Health, by N.I.H. Grant HD-04024, and by Maternal and Child Health Project 252.

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