Diagnosis and management of glutaric aciduria type I--revised recommendations.
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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; Angels, García Cazorla; Goodman, Stephen I; Koeller, David M; Kyllerman, Mårten; Mühlhausen, Chris; Müller, Edith; Okun, Jürgen G; Wilcken, Bridget; Hoffmann, Georg F; Burgard, Peter.
in: J INHERIT METAB DIS, Jahrgang 34, Nr. 3, 3, 2011, S. 677-694.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 - Angels, García Cazorla
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
PY - 2011
Y1 - 2011
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.
KW - Humans
KW - Algorithms
KW - Infant, Newborn
KW - Practice Guidelines as Topic
KW - Monitoring, Physiologic/methods
KW - Amino Acid Metabolism, Inborn Errors/complications/diagnosis/therapy
KW - Brain Diseases, Metabolic/complications/diagnosis/therapy
KW - Emergency Medical Services/methods
KW - Glutaryl-CoA Dehydrogenase/deficiency
KW - Mass Screening/methods
KW - Neonatal Screening/methods
KW - Nervous System Diseases/etiology/therapy
KW - Humans
KW - Algorithms
KW - Infant, Newborn
KW - Practice Guidelines as Topic
KW - Monitoring, Physiologic/methods
KW - Amino Acid Metabolism, Inborn Errors/complications/diagnosis/therapy
KW - Brain Diseases, Metabolic/complications/diagnosis/therapy
KW - Emergency Medical Services/methods
KW - Glutaryl-CoA Dehydrogenase/deficiency
KW - Mass Screening/methods
KW - Neonatal Screening/methods
KW - Nervous System Diseases/etiology/therapy
M3 - SCORING: Journal article
VL - 34
SP - 677
EP - 694
JO - J INHERIT METAB DIS
JF - J INHERIT METAB DIS
SN - 0141-8955
IS - 3
M1 - 3
ER -
