Programa de detección de errores innatos del metabolismo, Minas de Matahambre 2008-2012 [PDF]
Revista de Ciencias Médicas de Pinar del Río, 2014 Introducción: los errores innatos del metabolismo son un grupo muy heterogéneo de enfermedades congénitas, determinadas por el bloqueo de un paso metabólico debido a la mutación de genes responsables del funcionamiento del mismo.
Yinet Oliva López +1 more
doaj +4 more sources
Molecular Genetics & Genomic Medicine, 2019 Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in
Isabel Ibarra‐González +9 more
doaj +2 more sources
Metabolic impact of infant formulas in young infants. An outlook from the urine metabolome [PDF]
Heliyon, 2022 Introduction: Although breast milk is the ideal food source for newborns during the first six months of life, a high percentage of children receive infant formulas.
Angie Marcela Calvo Barbosa +6 more
doaj +2 more sources
Resultados del programa de pesquisaje neonatal de errores innatos del metabolismo en Las Tunas [PDF]
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Fundamento: la pesquisa de diversas enfermedades neonatales tiene importancia para la salud pública. La detección precoz y el tratamiento de las enfermedades metabólicas disminuyen los indicadores de morbilidad y mortalidad, permitiendo mejorar la ...
Madelin Rodríguez Cruz +2 more
doaj +3 more sources
Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect [PDF]
Molecular Genetics and Metabolism ReportsIsolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. Five iMMA-responsible genes have been described to date: MMUT (MIM *609058), MMAA (MIM *607481, MMAB (MIM *607568 ...
Cynthia Fernández-Lainez +11 more
doaj +2 more sources
Acta Pediátrica de México, 2022 La hiperamonemia aguda (HAA) es una urgencia médica que causa daño neurológico y puede conducir a daño neurológico o incluso la muerte. En los pacientes con errores innatos del metabolismo (EIM) se presenta con mayor frecuencia, sobre todo en eventos de ...
L. López-Mejía +7 more
semanticscholar +2 more sources
DIETOTERAPIA EN ERRORES INNATOS DEL METABOLISMO
Revista chilena de nutrición, 2004 Dependiendo del defecto enzimatico, algunos errores innatos del metabolismo (EIM) responden satisfactoriamente a la manipulacion de la dieta. Segun la alteracion metabolica, se han identificado siete formas de tratamiento nutricional, las que permiten ...
E. Cornejo
semanticscholar +2 more sources
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center [PDF]
Frontiers in Genetics, 2022 Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin deficiency (BH4D) are not always available in low- or middle-income countries, including Mexico ...
M. Vela-Amieva +10 more
doaj +2 more sources
Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center [PDF]
Molecular Genetics and Metabolism ReportsArginase deficiency (ARG1d) is an inborn error of metabolism caused by pathogenic variants in ARG1 gene, which causes a defective hydrolysis of arginine (Arg) to urea and ornithine. The molecular landscape of ARG1d in Mexico is poorly known.
M. Vela-Amieva +11 more
doaj +2 more sources
Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report [PDF]
Frontiers in NutritionOrnithine transcarbamylase deficiency (OTCD) is the most common disorder of the urea cycle and is caused by a mutation of the OTC gene, located on chromosome X.
Álvaro Martín-Rivada +2 more
doaj +2 more sources