Diagnosis and management of glutaric aciduria type I – revised recommendations

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises pre...

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Main Authors:	Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Format:	Online
Language:	English
Published:	Springer Netherlands 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109243/

id	pubmed-3109243
recordtype	oai_dc
spelling	pubmed-31092432011-07-14 Diagnosis and management of glutaric aciduria type I – revised recommendations Kölker, Stefan Christensen, Ernst Leonard, James V. Greenberg, Cheryl R. Boneh, Avihu Burlina, Alberto B. Burlina, Alessandro P. Dixon, Marjorie Duran, Marinus García Cazorla, Angels Goodman, Stephen I. Koeller, David M. Kyllerman, Mårten Mühlhausen, Chris Müller, Edith Okun, Jürgen G. Wilcken, Bridget Hoffmann, Georg F. Burgard, Peter Original Article Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline. Springer Netherlands 2011-03-23 2011-06 /pmc/articles/PMC3109243/ /pubmed/21431622 http://dx.doi.org/10.1007/s10545-011-9289-5 Text en © The Author(s) 2011
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Kölker, Stefan Christensen, Ernst Leonard, James V. Greenberg, Cheryl R. Boneh, Avihu Burlina, Alberto B. Burlina, Alessandro P. Dixon, Marjorie Duran, Marinus García Cazorla, Angels Goodman, Stephen I. Koeller, David M. Kyllerman, Mårten Mühlhausen, Chris Müller, Edith Okun, Jürgen G. Wilcken, Bridget Hoffmann, Georg F. Burgard, Peter
spellingShingle	Kölker, Stefan Christensen, Ernst Leonard, James V. Greenberg, Cheryl R. Boneh, Avihu Burlina, Alberto B. Burlina, Alessandro P. Dixon, Marjorie Duran, Marinus García Cazorla, Angels Goodman, Stephen I. Koeller, David M. Kyllerman, Mårten Mühlhausen, Chris Müller, Edith Okun, Jürgen G. Wilcken, Bridget Hoffmann, Georg F. Burgard, Peter Diagnosis and management of glutaric aciduria type I – revised recommendations
author_facet	Kölker, Stefan Christensen, Ernst Leonard, James V. Greenberg, Cheryl R. Boneh, Avihu Burlina, Alberto B. Burlina, Alessandro P. Dixon, Marjorie Duran, Marinus García Cazorla, Angels Goodman, Stephen I. Koeller, David M. Kyllerman, Mårten Mühlhausen, Chris Müller, Edith Okun, Jürgen G. Wilcken, Bridget Hoffmann, Georg F. Burgard, Peter
author_sort	Kölker, Stefan
title	Diagnosis and management of glutaric aciduria type I – revised recommendations
title_short	Diagnosis and management of glutaric aciduria type I – revised recommendations
title_full	Diagnosis and management of glutaric aciduria type I – revised recommendations
title_fullStr	Diagnosis and management of glutaric aciduria type I – revised recommendations
title_full_unstemmed	Diagnosis and management of glutaric aciduria type I – revised recommendations
title_sort	diagnosis and management of glutaric aciduria type i – revised recommendations
description	Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.
publisher	Springer Netherlands
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109243/
_version_	1611457867678744576

Diagnosis and management of glutaric aciduria type I – revised recommendations

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