Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect

Isolated 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), MMADHC (MIM *611935), and MCEE (MIM *608419). Alth...

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Main Authors: Cynthia Fernández-Lainez, Marcela Vela-Amieva, Miriam Reyna-Fabián, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Angel, Rosa Itzel Carrillo-Nieto, Enrique Ortega-Valdez, Mauricio Rojas-Maruri, Cecilia Ridaura-Sanz
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Double heterozygous, synergistic heterozygosity, methylmalonic acid
Inborn errors of metabolism
Propionate defects
Newborn screening
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924001083
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