Inborn Errors of Metabolism, an Important Group of Orphan Neglected Diseases: Investigation of 8,000 Patients in Rio de Janeiro, Brazil

Scalco, Fernanda B.; Oliveira, Maria Lúcia Costa de; Simonia, Ruth E.; Neto, Francisco Radler de Aquino

doi:10.5935/0103-5053.20140203

Cited by 2 publications

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“…Over 500 known IEMs, over 100 involving neonates, have been described (11). The frequencies for each individual IEM vary; although most are very rare, collectively they are common (12). In Egypt, 1 in every 32 individuals is reported to harbour a gene for an IEM (13).…”

Section: Discussionmentioning

confidence: 99%

A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care

El-Nawawy

Dawood

Omar

2018

East Mediterr Health J

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No statistics on small molecule disorders of IEM are available in Egypt. The aim of this retrospective study was to analyse the epidemiological and clinical data, final diagnoses and clinical outcomes of patients admitted to the paediatric intensive care unit (PICU) at Alexandria University Children's Hospital with a suspected or confirmed diagnosis of small molecule disorders. Methods In this 5-year retrospective study, we collected medical records of all patients admitted to the PICU at El-Shatby Children's Hospital, a tertiary care teaching hospital affiliated to Alexandria University (serving 4 governorates comprising 14 million people), from 1 January 2010 to 31 December 2014 (n = 1417). Ages ranged from 1 month to 6 years. The policy of our hospital is that all cases of small molecule disorders presented at the emergency room are admitted to PICU. Inclusion criteria were: confirmed diagnosis of small molecule disorders and suspected diagnosis of small molecule disorders at the time of PICU admission or during PICU stay, with no subsequent confirmation of diagnosis (according to PICU protocol). The exclusion criterion was previous diagnosis of small molecule disorders in patients admitted to the PICU during the study period. Out of 1417 PICU admissions, 34 patients (2.4%) had a suspected or confirmed small molecule disorder.

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Section: Discussionmentioning

confidence: 99%

A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care

El-Nawawy

Dawood

Omar

2018

East Mediterr Health J

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“…These results contrast with the experiences reported by Brazilian groups, where aminoacidopathies represent around 20% of the diagnosed cases and OA account for less than 10%. Moreover, for those laboratories, LSD are the most frequent diagnosis representing more than 45% of total cases [ 44 , 45 ]. Comparisons with other reports from Latin America is difficult considering that those reports are focused only on the diagnosis of aminoacidopathies and OA.…”

Section: Biochemical Diagnosismentioning

confidence: 99%

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Echeverri

Guevara

Espejo-Mojica

et al. 2018

Orphanet J Rare Dis

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The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals, as well as the research at basic, translational and clinical levels. Nevertheless, few reports have described the experience of these centers and their local and/or global impact in the study of IEM. In this paper, we describe the experience of a Colombian reference center for the research, diagnosis, training and education on IEM. During the last 20 years, important advances have been achieved in the clinical knowledge of these disorders, as well as in the local availability of several diagnosis tests. Organic acidurias have been the most frequently detected diseases, followed by aminoacidopathies and peroxisomal disorders. Research efforts have been focused in the production of recombinant proteins in microorganisms towards the development of new enzyme replacement therapies, the design of gene therapy vectors and the use of bioinformatics tools for the understanding of IEM. In addition, this center has participated in the education and training of a large number professionals at different levels, which has contributed to increase the knowledge and divulgation of these disorders along the country. Noteworthy, in close collaboration with patient advocacy groups, we have participated in the discussion and construction of initiatives for the inclusion of diagnosis tests and treatments in the health system.

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Inborn Errors of Metabolism, an Important Group of Orphan Neglected Diseases: Investigation of 8,000 Patients in Rio de Janeiro, Brazil

Cited by 2 publications

References 0 publications

A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care

A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

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