Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Additional individual contributors

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6 years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (Kölker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals.

Original languageEnglish (US)
Pages (from-to)1-27
Number of pages27
JournalJournal of Inherited Metabolic Disease
DOIs
StateAccepted/In press - Nov 16 2016

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Carnitine
Lysine
Hydroxylysine
Dystonic Disorders
Corpus Striatum
Neonatal Screening
Emergency Treatment
Metabolic Diseases
Movement Disorders
Therapeutics
Tandem Mass Spectrometry
Nervous System Diseases
Tryptophan
Gas Chromatography-Mass Spectrometry
Nervous System
Communicable Diseases
Vaccination
Fever
Diet
Morbidity

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I : second revision. / Additional individual contributors.

In: Journal of Inherited Metabolic Disease, 16.11.2016, p. 1-27.

Research output: Contribution to journalArticle

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abstract = "Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6 years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (K{\"o}lker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals.",
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AU - Boy, Nikolas

AU - Mühlhausen, Chris

AU - Maier, Esther M.

AU - Heringer, Jana

AU - Assmann, Birgit

AU - Burgard, Peter

AU - Dixon, Marjorie

AU - Fleissner, Sandra

AU - Greenberg, Cheryl R.

AU - Harting, Inga

AU - Hoffmann, Georg F.

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AU - Koeller, David

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AU - Okun, Jürgen G.

AU - Opladen, Thomas

AU - Posset, Roland

AU - Sahm, Katja

AU - Zschocke, Johannes

AU - Kölker, Stefan

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AU - Fingerhut, Ralph

AU - García-Cazorla, Angeles

AU - Lindner, Martin

AU - Scholl-Bürgi, Sabine

AU - Vom Dahl, Stephan

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