Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

Dionisi‐Vici, Carlo; Rizzo, Cristiano; Burlina, Alberto; Caruso, U.; Sabetta, G.; Uziel, Graziella; Abeni, Damiano

doi:10.1067/mpd.2002.122394

Cited by 204 publications

(171 citation statements)

References 16 publications

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“…The prevalences of LSD in The Netherlands, Czech Republic, and Italy, on the other hand, are~50 % less than UAE (14, 12, and 12 per 100,000, respectively), Table 1 (Poorthuis et al 1999;Dionisi-Vici et al 2002;Poupetova et al 2010). Consistently, 37 of the 39 (95 %) Emiratis who had genotyping were homozygous and other 2 were compound heterozygous (Table 2).…”

Section: Discussionsupporting

confidence: 54%

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

et al. 2012

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Section: Discussionsupporting

confidence: 54%

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

et al. 2012

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“…Clinical syndromes have been described involving deficiencies of five urea cycle enzymes and three related cofactors and transporters [1][2][3]. The most common of these conditions, ornithine transcarbamylase deficiency (OTCD), is the only X-linked disorder, with an incidence of 1:70,000 [4]. Heterozygous females manifest a variable phenotype due to both allelic heterogeneity and differential X-inactivation.…”

Section: Introductionmentioning

confidence: 99%

1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations

Gropman

Seltzer

Sawyer

et al. 2008

Molecular Genetics and Metabolism

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We used 1 H MRS to evaluate brain metabolic differences in sisters with partial ornithine transcarbamylase deficiency (OTCD) who had discordant clinical symptoms and urea synthetic capabilities to assess whether a brain biomarker of partial OTCD correlated with urea synthetic ability and clinical severity. We performed single voxel 3.0T 1 H MRS in two adult sisters with partial OTCD, one symptomatic and one asymptomatic, in a stable medical state and compared it to one age matched adult control, as well as data collected on an additional 13 subjects with partial OTCD and 12 controls. Data from voxels placed in frontal and parietal white matter (FWM, PWM), posterior cingulate gray matter (PCGM), and thalamus (tha), were corrected for partial volume and analyzed using "LCModel". All three subjects as well as the symptomatic mother of the two sisters, had neurocognitive testing, plasma ammonia levels, plasma amino acid, and urine organic acid analysis. Previous urea synthetic capabilities had been measured by stable isotope analysis. We found IQ scores to be inversely related to symptoms. Decreased myoinositol (mI) identified OTCD subjects, even the sister who is asymptomatic, in the posterior parietal white matter and frontal white matter. Brain metabolism is impaired in partial OTCD. Abnormal metabolism in apparently asymptomatic OTCD females may provide an explanation for neurocognitive impairments previously reported. The concentration of mI seen on 1 HMRS in PWM and FWM in this family could be used to deduce clinical symptomatology and may serve as a non invasive marker of brain liability in OTCD.

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“…Estimated incidences are 1:35,000 for UCD (Summar et al 2014) and 1:21,000 for OA (Dionisi-Vici et al 2002). Recently, the natural course of the diseases has been described in two large samples (K€ olker et al 2015a;K€ olker et al 2015b;Waisbren et al 2016).…”

Section: Introductionmentioning

confidence: 99%

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

et al. 2017

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Introduction: This study is part of the "European network and registry for intoxication type metabolic diseases" (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD) and organic acidurias (OA) have a major impact on patients' lives. Patients have to adhere to strict diet and medication and may suffer from metabolic crises and neurocognitive impairment. Disease-specific health-related quality of life (HrQoL) assessment questionnaires are the method of choice to estimate the subjective burden of a Communicated by: Pascale de Lonlay "Peter Burgard," "Markus A. Landolt," and "Martina Huemer" are contributed equally to this project. Electronic supplementary material:The online version of this chapter

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Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

Cited by 204 publications

References 16 publications

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

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