Journal ArticleDOI
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 +19 more
TLDR
Kolker et al. as discussed by the authors re-evaluated the previous recommendations and added new research findings, relevant clinical aspects, and the perspective of affected individuals, which can be reliably detected by gas chromatography/mass spectrometry.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 (Kolker 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.read more
Citations
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Journal ArticleDOI
Newborn screening: A disease-changing intervention for glutaric aciduria type 1
Nikolas Boy,Katharina Mengler,Eva Thimm,Katharina A. Schiergens,Thorsten Marquardt,Natalie Weinhold,Iris Marquardt,Anibh M. Das,Peter Freisinger,Sarah C. Grünert,Judith Vossbeck,Robert Steinfeld,Matthias R. Baumgartner,Skadi Beblo,Andrea Dieckmann,Andrea Näke,Martin Lindner,Jana Heringer,Georg F. Hoffmann,Chris Mühlhausen,Esther M. Maier,Regina Ensenauer,Sven F. Garbade,Stefan Kölker +23 more
TL;DR: Implementation of GA1 into newborn screening programs has improved the short‐term outcome, but it remains unclear, however, whether NBS changes the long-term outcome and which variables are predictive.
Journal ArticleDOI
Movement Disorders in Treatable Inborn Errors of Metabolism.
TL;DR: A general framework for a phenomenology‐based approach to movement disorders in inborn errors of metabolism is developed and an approach to identifying the “top ten” of treatable inbornerrors of metabolism that present with movement disorders is discussed—diagnoses that should never be missed.
Journal ArticleDOI
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity
Nikolas Boy,Jana Heringer,Renate Brackmann,Olaf Bodamer,Angelika Seitz,Stefan Kölker,Inga Harting +6 more
TL;DR: While clinical findings are non-specific, frontotemporal hypoplasia and subependymal nodules are characteristic MRI findings of late-onset GA1 and should trigger diagnostic investigation for this rare disease.
Journal ArticleDOI
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.
Eva M. M. Hoytema van Konijnenburg,Saskia B. Wortmann,Saskia B. Wortmann,Marina J. Koelewijn,Laura A. Tseng,Roderick F.A. Houben,Sylvia Stockler-Ipsiroglu,Carlos Ferreira,Clara D.M. van Karnebeek +8 more
TL;DR: The Treatable ID App as mentioned in this paper was created in 2012 as a digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively "treatable IDs).
Journal ArticleDOI
Neurological manifestations of organic acidurias.
TL;DR: The goal of the article is to alert neurologists and related health professionals to the existence and importance of these neurometabolic diseases and to stimulate research into the damaging factors that contribute to their neurodegenerative sequelae.
References
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