Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

Hoffmann, Georg F.; Athanassopoulos, S.; Burlina, Alberto; Durán, Marinus; Klerk, J. B. C. de; Lehnert, W.; Leonard, James V.; Monavari, Ahmad; Müller, Edith; Muntau, Ania C.; Naughten, E. R.; Plecko, Barbara; Superti‐Furga, Andrea; Zschocke, Johannes; Christensen, Ernst

doi:10.1055/s-2007-973761

Cited by 212 publications

(254 citation statements)

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“…In the other symptomatic patients, no acute encephalopathic crises were reported. Thirty-four of them were classified as insidious onset (6,19) and five as late onset (22,23); five patients remained unclassified. Patients with late onset type were not treated specifically before diagnosis, and were diagnosed only after symptoms supervened.…”

Section: Study Populationmentioning

confidence: 99%

“…Strikingly, acute encephalopathic crises, which are precipitated by intercurrent febrile illnesses and primarily affect the striatum (18 -20), usually manifest during infancy (3,19,21). However, late-onset neurologic disease has recently been described (22,23).…”

mentioning

confidence: 99%

“…Before the onset of an encephalopathic crisis, the presentation of affected children is nonspecific, with macrocephaly being the most characteristic clinical feature (3,19,21). If diagnosed in a timely manner and treated with a special diet and L-carnitine supplementation as well as an intensified emergency therapy during intercurrent illness (24), the development of acute encephalopathic crises and striatal damage has been prevented in 65-95% of children (3,19,25). However, the neuroprotective effect of different protocols has not been studied systematically and the level of evidence in the majority of clinical studies has been low.…”

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confidence: 99%

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Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

et al. 2006

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Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of L-lysine, L-hydroxylysine, and L-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises. Three decades after its description, the natural history and how to treat this disorder are still incompletely understood. To study which variables influenced the outcome, we conducted an international cross-sectional study in 35 metabolic centers. Our main outcome measures were onset and neurologic sequelae of acute encephalopathic crises. A total of 279 patients (160 male, 119 female) were included who were diagnosed clinically after clinical presentation (n ϭ 218) or presymptomatically by neonatal screening (n ϭ 23), high-risk screening (n ϭ 24), or macrocephaly (n ϭ 14). Most symptomatic patients (n ϭ 185) had encephalopathic crises, characteristically resulting in bilateral striatal damage and dystonia, secondary complications, and reduced life expectancy. First crises usually occurred during infancy (95% by age 2 y); the oldest age at which a repeat crisis was reported was 70 mo. In a few patients, neurologic disease developed without a reported crisis. Differences in the diagnostic criteria and therapeutic protocols for patients with GCDH deficiency resulted in a huge variability in the outcome worldwide. Recursive partitioning demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with L-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease. Notably, the biochemical phenotype did not predict the clinical phenotype. Our study proves GCDH deficiency to be a treatable disorder and a good candidate for neonatal screening.

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Section: Study Populationmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

et al. 2006

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“…The histogenesis of PRC is still unclear. Five major hypotheses have been advocated: heterotopic ovarian tissue 2 , monodermal variant of teratomas 3 , embryonic urogenital remnants 4 , intestinal duplications 5 and celomic metaplasia 6 . In our case, histological and immunohistochemical analyses concluded that the PRC developed from an extraovarian Müllerian issue.…”

Section: Primary Retroperitoneal Endometrial Cystadenocarcinoma Presementioning

confidence: 99%

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

Mellerio

Marignier

Roth

et al. 2008

Ultrasound in Obstet & Gyne

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“…Typically, GA1 presents in later infancy as an acute encephalopathy with predominant dystonia and dyskinesia due to necrosis of the basal ganglia, particularly affecting the putamina [19]. However, neonates may present with macrocephaly and subtle neurological signs such as hypotonia, irritability and jitteriness.…”

Section: Glutaric Aciduria Typementioning

confidence: 99%

Neonatal Seizures and Inborn Errors of Metabolism: An Update

Parisi¹,

Nicotera²,

Alagna³

et al. 2015

Int J Pediatr Neonat Care

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Early identification of an underlying inborn error of metabolism in newborns with otherwise unexplained seizures may address appropriate disease-specific treatment and provide important tools about the choice of the antiepileptic drugs.Neonatal seizures usually present as prolonged or recurrent, often configuring epileptic status. Striking features of an underlying metabolic disorder include abnormal neurological examination, lethargy and/ or symptoms of acute decompensation.Ex adiuvantibus, trial with intravenous pyridoxine administration could be attempted in refractory unexplained neonatal seizures. Peculiar EEG patterns such as Suppression Burst may address diagnosis and laboratory work-up being most frequently associated to specific metabolic disorders.

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Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

Cited by 212 publications

References 0 publications

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

Neonatal Seizures and Inborn Errors of Metabolism: An Update

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