TY - JOUR
T1 - Diagnosis and management of glutaric aciduria type I - Revised recommendations
AU - Kölker, Stefan
AU - Christensen, Ernst
AU - Leonard, James V.
AU - Greenberg, Cheryl R.
AU - Boneh, Avihu
AU - Burlina, Alberto B.
AU - Burlina, Alessandro P.
AU - Dixon, Marjorie
AU - Duran, Marinus
AU - García Cazorla, Angels
AU - Goodman, Stephen I.
AU - Koeller, David M.
AU - Kyllerman, Mårten
AU - Mühlhausen, Chris
AU - Müller, Edith
AU - Okun, Jürgen G.
AU - Wilcken, Bridget
AU - Hoffmann, Georg F.
AU - Burgard, Peter
N1 - Funding Information:
Details of funding This publication arises from the project "E-IMD" (to S. Kölker, G. F. Hoffmann, E. Christensen, A. B. Burlina and A. Garcia Cazorla) which has received funding from the European Union, in the framework of the Health Programme. Guideline development for glutaric aciduria type I (GA-I) has also been supported by the German Federal Ministry of Education and Science (BMBF # 01GM0305; to S. Kölker and G. F. Hoffmann) and the “Kindness for Kids” Foundation, Munich, Germany (to S. Kölker and G. F. Hoffmann). Milupa Metabolics, SHS International, Applied Nutrition, Nutricia, and Vitaflo have sponsored the guidelines meetings. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
PY - 2011/6
Y1 - 2011/6
N2 - 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.
AB - 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.
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U2 - 10.1007/s10545-011-9289-5
DO - 10.1007/s10545-011-9289-5
M3 - Article
C2 - 21431622
AN - SCOPUS:79959781632
SN - 0141-8955
VL - 34
SP - 677
EP - 694
JO - Journal of inherited metabolic disease
JF - Journal of inherited metabolic disease
IS - 3
ER -