Journal of Inherited Metabolic Disease

, Volume 40, Issue 1, pp 75–101 | Cite as

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

  • Nikolas Boy
  • Chris Mühlhausen
  • Esther M. Maier
  • Jana Heringer
  • Birgit Assmann
  • Peter Burgard
  • Marjorie Dixon
  • Sandra Fleissner
  • Cheryl R. Greenberg
  • Inga Harting
  • Georg F. Hoffmann
  • Daniela Karall
  • David M. Koeller
  • Michael B. Krawinkel
  • Jürgen G. Okun
  • Thomas Opladen
  • Roland Posset
  • Katja Sahm
  • Johannes Zschocke
  • Stefan Kölker
  • Additional individual contributors


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.


Dystonia Emergency Treatment Glutaric Acid Gross Motor Function Classification System Glutaric Aciduria Type 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Amino acids


Amino acid mixture




Dried blood spots


Glutaric acid


Glutaric aciduria type I


Glutaryl-CoA dehydrogenase


Gas chromatography/mass spectrometry


Grading of recommendations, assessment, development and evaluation


Guideline development group


International unit


Magnetic resonance imaging


Tandem mass spectrometry


Newborn screening


3-Hydroxyglutaric acid


Subdural hemorrhage


Scottish intercollegiate guidelines network



This second guideline revision was supported by the German Society of Paediatrics (Deutsche Gesellschaft für Kinder- und Jugendmedizin, DGKJ).

Coauthors summarized as additional individual contributors are: Diana Ballhausen (Centre des maladies moléculaires, CHUV-Clinique Infantile, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland); Alberto B. Burlina (Division of Inherited Metabolic Diseases, University Hospital, Padova, Italy); Ralph Fingerhut (University Children`s Hospital, Zürich, Switzerland); Angeles García-Cazorla (Neurology and Metabolism Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues de Llobregat, E-08950 Barcelona, Spain); Berthold Koletzko (Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany); Martin Lindner (Division of Metabolic Diseases, University Children’s Hospital Frankfurt, Frankfurt, Germany); Sabine Scholl-Bürgi (Clinic for Paediatrics I, Inherited Metabolic Disorders, Medical, University of Innsbruck, Innsbruck, Austria) and Stephan vom Dahl (Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, University of Düesseldorf, Düsseldorf, Germany).

We thank Avihu Boneh, Alessandro P. Burlina, Ernst Christensen, Marinus Duran, Stephen I. Goodman, Mårten Kyllermann, James V. Leonard, Edith Müller, Eileen R. Naughten, and Bridget Wilcken for their contributions to the initial guideline development and first revision of guideline recommendations (Kölker et al. 2007b, 2011).

Additionally, we thank Mrs. Mirjam Kallmes as a representative of a support group for individuals with GA-I for her valuable input at the GDG meeting.

Details of funding

The process for the second guideline revision was financially supported by the German Society of Paediatrics (Deutsche Gesellschaft für Kinder- und Jugendmedizin, DGKJ) and logistically supported by the University Hospital Heidelberg, Germany. The guideline process has not been influenced by the financing organisations.

Competing interest

Consideration of conflicts of interests followed a recently recommended procedure (Zschocke et al. 2016). All authors declare that the answers to all other questions on the JIMD competing interest form are “NO”. The authors confirm independence from sponsors. The GDG did not accept direct funding from medical product companies or company foundations. Nikolas Boy, Chris Mühlhausen, Jana Heringer, Brigit Assmann, Diana Ballhausen, Alberto B. Burlina, Marjorie Dixon, Ralph Fingerhut, Angeles García-Cazorla, Cheryl R. Greenberg, Inga Harting, Berthold Koletzko, Martin Lindner, Jürgen G. Okun, Thomas Opladen, Roland Posset, Katja Sahm, Sabine Scholl-Bürgi, Stephan vom Dahl and Johannes Zschocke declare that they have no conflict of interest. Four members (Peter Burgard, Sandra Fleissner, Stefan Kölker, Michael Krawinkel) were consultants for a pharmaceutical company; five members (Peter Burgard, Sandra Fleissner, Georg F. Hoffmann, Stefan Kölker, Esther M. Maier) gave presentations during meetings organized by a pharmaceutical company; three members (Peter Burgard, Daniela Karall, Michael Krawinkel) received financial funding for research; one member (David M. Koeller) acted as an expert witness. No serious conflict of interest was declared. The content of this article has not been influenced by the sponsors.

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Copyright information

© SSIEM 2016

Authors and Affiliations

  • Nikolas Boy
    • 1
  • Chris Mühlhausen
    • 2
  • Esther M. Maier
    • 3
  • Jana Heringer
    • 1
  • Birgit Assmann
    • 1
  • Peter Burgard
    • 1
  • Marjorie Dixon
    • 4
  • Sandra Fleissner
    • 3
  • Cheryl R. Greenberg
    • 5
    • 6
  • Inga Harting
    • 1
    • 7
  • Georg F. Hoffmann
    • 1
  • Daniela Karall
    • 8
  • David M. Koeller
    • 9
  • Michael B. Krawinkel
    • 10
  • Jürgen G. Okun
    • 1
  • Thomas Opladen
    • 1
  • Roland Posset
    • 1
  • Katja Sahm
    • 1
  • Johannes Zschocke
    • 11
  • Stefan Kölker
    • 1
  • Additional individual contributors
  1. 1.Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic MedicineUniversity Hospital HeidelbergHeidelbergGermany
  2. 2.University Children’s Hospital, University Medical Centre Hamburg-EppendorfHamburgGermany
  3. 3.Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University of MunichUniversity of Munich Medical CentreMunichGermany
  4. 4.Dietetics, Great Ormond Street Hospital for Children, NHS Foundation TrustLondonUK
  5. 5.Department of PediatricsChildren’s Hospital Health Sciences Centre and University of ManitobaWinnipegCanada
  6. 6.Department of Biochemistry and Medical GeneticsChildren’s Hospital Health Sciences Centre and University of ManitobaWinnipegCanada
  7. 7.Department of NeuroradiologyUniversity Hospital HeidelbergHeidelbergGermany
  8. 8.Clinic for Paediatrics I, Inherited Metabolic Disorders, MedicalUniversity of InnsbruckInnsbruckAustria
  9. 9.Department of Molecular & Medical GeneticsOregon Health & Science UniversityPortlandUSA
  10. 10.Justus Liebig University Giessen, Institute of Nutritional ScienceGiessenGermany
  11. 11.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria

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