Glutaric aciduria; A “new” disorder of amino acid metabolism

Goodman, Stephen I.; Markey, Sanford P.; Moe, Paul G.; Miles, Barbara S.; Teng, Cecilia

doi:10.1016/0006-2944(75)90091-5

Cited by 294 publications

(124 citation statements)

References 26 publications

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“…Glutaric aciduria type I (GA-I, OMIM 231670) is a rare but treatable autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH) resulting in GCDH deficiency (Goodman et al 1975;Koeller et al 1995Koeller et al , 2004Strauss et al 2003). GCDH is a homotetramer mitochondrial matrix enzyme that catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and carbon dioxide (Strauss et al 2003).…”

Section: Introductionmentioning

confidence: 99%

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Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

et al. 2014

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Section: Introductionmentioning

confidence: 99%

“…Since the initial description of GA-I by Goodman et al, more than 450 cases have been documented in the literature (Goodman et al 1975). Prevalence has been variably estimated between 1:100,000 and 1:30,000 in different studies and populations (Strauss et al 2003;K€ olker et al 2006a.…”

Section: Introductionmentioning

confidence: 99%

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

et al. 2014

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“…This inborn error of metabolism has been fi rstly described in 1975 by Goodman in two patients (1). Actually more than 500 cases have been reported worldwide.…”

Section: Introductionmentioning

confidence: 93%

GAI – distinct genotype and phenotype characteristics in reported Slovak patients

Lisyová¹,

Petrovič²,

Juříčková³

et al. 2017

BLL

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OBJECTIVES: The clinical, biochemical and genetic fi ndings in two Slovak patients with glutaric aciduria type I (GAI) are presented. BACKGROUND: GAI is a rare autosomal recessive neuro-metabolic disorder caused by defi ciency of glutarylCoA dehydrogenase, which is involved in the catabolic pathways of lysine, hydroxylysine and tryptophan. This enzymatic defect gives rise to elevated levels of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA) and glutarylcarnitine (C5DC) in body fl uids. METHODS: Biochemical and molecular-genetic tests were performed. Urinary organic acids were analysed by Gas Chromatography/Mass Spectrometry (GC/MS) and the entire coding region of the GCDH gene, including fl anking parts, was sequenced. RESULTS: We found the presence of typical metabolic profi le and novel causal pathogenic variants in both GAI patients. CONCLUSION: We present the fi rst report of two Slovak patients with GAI, which differed in the clinical and biochemical phenotype signifi cantly. They were diagnosed by two distinct approaches -selective and newborn screening. Their diagnosis was complexly confi rmed by biochemical and later on molecular-genetic examinations. Though we agreed with a thesis that early diagnostics might positively infl uenced patientʼs health outcome, contradictory facts should be considered. Supposed extremely low prevalence of GAI patients in the general population and/or the existence of asymptomatic individuals with a questionable benefi t of the applied therapeutic intervention for them lead to doubts whether the inclusion of disease into the newborn screening programme is justifi ed well enough (Tab. 1, Fig. 3

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“…The prevalence may be much higher in isolated populations in the Middle East countries due to higher rates of consanguinity [6,7]. GA-1 was described first by Goodman et al in 1975 [8]. Mutations in the mitochondrial GCDH gene located on chromosome 19 (19p13.2) lead to a deficiency of GCDH, a mitochondrial enzyme involved in the metabolism of lysine, hydroxyl-lysine, and tryptophan [8][9][10][11].…”

Section: Introductionmentioning

confidence: 99%

“…GA-1 was described first by Goodman et al in 1975 [8]. Mutations in the mitochondrial GCDH gene located on chromosome 19 (19p13.2) lead to a deficiency of GCDH, a mitochondrial enzyme involved in the metabolism of lysine, hydroxyl-lysine, and tryptophan [8][9][10][11]. This defect results in the accumulation of GA and 3-hydroxyglutaric acid (3-OHGA) with secondary carnitine depletion.…”

Section: Introductionmentioning

confidence: 99%

Perioperative Management of a Patient With Glutaric Aciduria

et al. 2015

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Glutaric aciduria type-1 (GA-1) is an autosomal recessive metabolic disorder due to the deficiency of the enzyme, glutaryl-CoA dehydrogenase. The enzymatic defect leads to secondary damage to the central nervous system due to the accumulation of glutaric acid. Due to the progressive neurologic effects with spasticity and orthopedic deformities, surgical and anesthetic cares are frequently required. We present a 13-year-old girl with glutaric acidemia type 1 who required anesthetic care for posterior spinal fusion. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement is discussed, and options for anesthetic care are presented.

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Glutaric aciduria; A “new” disorder of amino acid metabolism

Cited by 294 publications

References 26 publications

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

GAI – distinct genotype and phenotype characteristics in reported Slovak patients

Perioperative Management of a Patient With Glutaric Aciduria

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