Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

Couce, María L.; López-Suárez, Olalla; Bóveda, M. Dolores; Castiñeiras, Daisy; Cocho, José A.; García-Villoria, Judit; Castro-Gago, Manuel; Fraga, José M.; Ribes, Antònia

doi:10.1016/j.ejpn.2013.01.003

Cited by 53 publications

(73 citation statements)

References 33 publications

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“…These typically result in induced striatal neuron degeneration, and often result in severe neurological sequela, such as dystonia and extrapyramidal symptoms (14). An early diagnosis, together with a reasonable diet, energy supplements and active treatment towards complicating diseases (such as induced acute encephalopathy) could significantly improve the prognosis; however, nearly one-third of pediatric patients experiencing GA-I suffer from severe neurological sequela even after aggressive treatment (15). …”

Section: Discussionmentioning

confidence: 99%

“…By performing GC-MS in newborns and high-risk screenings, an increasing number of patients with GA-I could obtain diagnosis in asymptomatic or early stages, so that early treatment can improve their prognosis (15). A region in USA applied GS-MS technology to screen high-risk infants of an Amish family between 1988 and 1994, and several asymptomatic patients were identified (26).…”

Section: Discussionmentioning

confidence: 99%

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Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Zhang

Luo

2016

Experimental and Therapeutic Medicine

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The aim of the present study was to investigate the clinical, biochemical and genetic mutation characteristics of two cases of late-onset glutaric aciduria type I (GA-I) in Uighur. The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late-onset GA-I in Uighur were collected and analyzed, and reviewed with relevant literature. One patient with late-onset GA-I primarily exhibited clinical intermittent headache, while the other patient was asymptomatic. The urinary organic acid analysis detected a large number of glutaric acid and 3-hydroxy glutaric acid, 3-hydroxy-propionic acid. One patient exhibited white matter degeneration in cranial magnetic resonance imaging (MRI) and the other patient showed no abnormality. The two patients both exhibited c. 1204C >T, p.R402W, heterozygous mutation, and c. 532G >A, p.G178R, heterozygous mutation. Besides central nervous system infectious diseases, patients with clinical headache, cranial MRI-suggested bilateral temporal lobe arachnoid cyst and abnormal signals in the basal ganglia should be highly suspected as late-onset GA-I. Early diagnosis and correct treatment are key to improve its prognosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Zhang

Luo

2016

Experimental and Therapeutic Medicine

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“…Externalising behavioural problems have been noted in children with 'intoxication type' metabolic disorders such as GA-I (Simons et al 2006), and there have been two reports of attention deficit hyperactivity disorder diagnoses in children with GA-I, one in a clinically diagnosed child (Kyllerman et al 2004) and another diagnosed by newborn screening and treated early (Couce et al 2013). Furthermore, GA-I mice have been found to have altered dopaminergic functioning, associated with hyperactivity (Busanello et al 2013).…”

Section: Behaviour and Social Skillsmentioning

confidence: 95%

Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

et al. 2014

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Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor developmental outcome. Information regarding the long-term neurodevelopmental outcome of children with GA-I treated early is sparse.We recruited children with a confirmed diagnosis of GA-I diagnosed via newborn screening, treated in our centre and >3 years of age (n = 6). Children were assessed at two time points using a comprehensive neuropsychological test battery. Four of these had been the subject of a previous report. All participants were male, 3-6 years at the initial assessment and 6-12 years of age at the follow-up assessment.Fine motor skills were below average in all patients. Speech, which was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in two patients. Compounding factors included child neglect, family history of autism and multiple admissions to hospital (n = 1 in each).GA-I affects fine motor skills and speech, regardless of early treatment, but not IQ scores. Patients with GA-I should be referred for assessment and appropriate early intervention. Further research is needed to correlate specific neuropsychological deficits with neuroimaging.

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“…At the time this study was performed, clinical data on the effectiveness of early dietary treatment was limited to a small number of studies, and management of the disorder was not clearly defined. In the meantime, several studies have provided further evidence for the effectiveness of early dietary treatment [1,3,19]. To our knowledge, the cost-effectiveness for inclusion of GA-I into pre-existing MS/MS based newborn screening programmes has never been investigated in detail thereafter, even though it is relevant to decision makers who want to offer the best “value for money” to the society [14,20].…”

Section: Introductionmentioning

confidence: 99%

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

Pfeil

Listl

Hoffmann

et al. 2013

Orphanet J Rare Dis

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BackgroundGlutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries recommend newborn screening for GA-I. So far only limited data is available enabling health care decision makers to evaluate whether investing into GA-I screening represents value for money. The aim of our study was therefore to assess the cost-effectiveness of newborn screening for GA-I by tandem mass spectrometry (MS/MS) compared to a scenario where GA-I is not included in the MS/MS screening panel.MethodsWe assessed the cost-effectiveness of newborn screening for GA-I against the alternative of not including GA-I in MS/MS screening. A Markov model was developed simulating the clinical course of screened and unscreened newborns within different time horizons of 20 and 70 years. Monte Carlo simulation based probabilistic sensitivity analysis was used to determine the probability of GA-I screening representing a cost-effective therapeutic strategy.ResultsWithin a 20 year time horizon, GA-I screening averts approximately 3.7 DALYs (95% CI 2.9 – 4.5) and about one life year is gained (95% CI 0.7 – 1.4) per 100,000 neonates screened initially . Moreover, the screening programme saves a total of around 30,682 Euro (95% CI 14,343 to 49,176 Euro) per 100,000 screened neonates over a 20 year time horizon.ConclusionWithin the limitations of the present study, extending pre-existing MS/MS newborn screening programmes by GA-I represents a highly cost-effective diagnostic strategy when assessed under conditions comparable to the German health care system.

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Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

Cited by 53 publications

References 33 publications

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases

Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

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