Caracterización de errores innatos del metabolismo intermediario en pacientes mexicanos

Ibarra-González, Isabel; Fernández-Lainez, Cynthia; Belmont-Martínez, Leticia; Guillén-López, Sara; Monroy-Santoyo, Susana; Vela-Amieva, Marcela

doi:10.1016/j.anpedi.2013.09.003

Cited by 8 publications

(6 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, it is important to note that PKU was not included in this report since it is detected by NBS. Besides, Ibarra-González et al [ 26 ] found in Mexican population a similar number of cases diagnosed with OA and AA, while Queiruga in 2015 reported that AA was the most frequent group detected in Uruguay, followed by congenital hypothyroidism, congenital adrenal hyperplasia and cystic fibrosis [ 24 ]. In addition, although most of the worldwide available literature is based on NBS scenarios, it is also observed a high heterogeneity in the detected IEM depending on the studied region [ 24 , 46 – 50 ].…”

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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…Few works have been published on the epidemiology of IEiM in Mexico, and most cover regional or local experiences regarding specific disorders [ 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 ]. Therefore, Mexican patients with IEiM are under-represented in the current literature.…”

Section: Introductionmentioning

confidence: 99%

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

Ibarra-González,

Fernández-Lainez,

Vela-Amieva

et al. 2023

IJNS

View full text Add to dashboard Cite

Advances in an early diagnosis by expanded newborn screening (NBS) have been achieved mainly in developed countries, while populations of middle- and low-income countries have poor access, leading to disparities. Expanded NBS in Mexico is not mandatory. Herein, we present an overview of the differences and unmet NBS needs of a group of Mexican patients with inborn errors of intermediary metabolism (IEiM), emphasizing the odyssey experienced to reach a diagnosis. We conducted a retrospective observational study of a historical cohort of patients with IEiM from a national reference center. A total of 924 patients with IEiM were included. Although 72.5% of the diseases identified are detectable by expanded NBS, only 35.4% of the patients were screened. The mortality in the unscreened group was almost two-fold higher than that in the screened group. Patients experienced a median diagnostic delay of 4 months, which is unacceptably long considering that to prevent disability and death, these disorders must be treated in the first days of life. Patients had to travel long distances to our reference center, contributing to their unacceptable diagnostic odyssey. This study highlights the urgent need to have an updated, expanded NBS program with adequate follow up in Mexico and promote the creation of regional medical care centers. We also provide compelling evidence that could prove valuable to decision makers overseeing public health initiatives for individuals impacted by IEiM from middle- and low-income countries.

show abstract

“…4 Los errores innatos del metabolismo son un conjunto de padecimientos que se presentan como consecuencia de la actividad insuficiente de una vía metabólica, ya sea por deficiencia puntual en una enzima o por distintos errores que llevan a una vía ineficaz. 9 Dentro de esta categoría, se incluyen más de 500 enfermedades que por sí solas presentan una baja incidencia; sin embargo, al tomar en cuenta todo el grupo, obtienen una incidencia mayor a 1:1,000 habitantes, de manera que representan un conjunto importante de padecimientos. Detectarlos y tratarlos de manera temprana permite mejorar considerablemente la morbilidad y mortalidad.…”

Section: Introductionunclassified

Alta sospecha de enfermedades metabólicas congénitas en la población de ascendencia judía del Hospital Ángeles Lomas

Doria¹,

Kovalsky

Amieva

et al. 2017

Acta Médica Grupo Ángeles

View full text Add to dashboard Cite

Background: The application of the neonatal screening and its extension to diseases not identified by the classic method constitutes a challenge that has led to the application of new technologies, such as the multiple platform and the tandem mass spectrometry. A predisposition to these pathologies has been identifi ed in certain communities not previously studied, like the Jewish one; this makes their study essential for their timely diagnosis. Objective: To report the number of neonatal screening assays with suspicious reports for a congenital metabolic disease in those patients of Jewish ascent in the Angeles Lomas Hospital, and to compare it to the rest of the cases. Material and methods: We analyzed all the neonatal screenings performed between January 2010 and December 2014 at the Angeles Lomas Hospital. The suspicious results were recorded in a database, analyzing sex and ethnicity. Results: 4,749 neonatal screenings were analyzed; 1,425 were of Jewish ascendant. One hundred seventy-two screenings were suspicious, but only 27 were consistent in the second test. Of them, 50% of the females and 41% of the males were Jewish. Conclusion: We observed an elevated incidence of suspicious cases of congenital

show abstract

Caracterización de errores innatos del metabolismo intermediario en pacientes mexicanos

Cited by 8 publications

References 23 publications

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

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

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

Alta sospecha de enfermedades metabólicas congénitas en la población de ascendencia judía del Hospital Ángeles Lomas

Contact Info

Product

Resources

About