Inborn errors of metabolism as rare diseases with a specific global situation
Keywords:
Errores Congénitos del Metabolismo (ECM), Hiperfenilalaninemia, Enfermedades lisosomales, Tratamiento enzimáticoAbstract
So-called congenital metabolic diseases (CMD) are a consequence of biochemical alterations originating in the genes that result in the alteration of a protein. Depending on this protein’s function - whether as an enzyme, a hormone, a receiver-transporter of a cellular membrane or forming part of a cellular organelle (lysosome, peroxysome) – different groups of diseases emerge, which cause the most outstanding characteristic of inborn errors of metabolism (IEM): their clinical heterogeneity. The majority of these diseases are autosomal recessive, with a limited number of asymptomatic carriers, but there are also those ruled by an autonomous, dominant character inheritance or linked to the X chromosome. Taken individually, CMDs are highly infrequent, but taken as a whole CMDs (of which over 500 have been described to date) can affect 1/500 of the newborn. A common characteristic of many CMDs is the possibility of dietary treatment and treatment with enzymatic replacement. For essentially didactic purposes the following groups should be considered: CMDs of the intermediary metabolism (whose types are intoxication and energy deficit), CMDs of cellular organelles, complex CMDs due to cycle alterations and others. A summary is presented of the clinical, diagnostic and therapeutic aspects of one disease of each type of those previously described: hyperphenylalaninemias, deficiencies of the mitochondrial oxidative phosphorilation (OXPHOS) and lysosomal storage diseases.Downloads
Downloads
Published
How to Cite
Issue
Section
License
La revista Anales del Sistema Sanitario de Navarra es publicada por el Departamento de Salud del Gobierno de Navarra (España), quien conserva los derechos patrimoniales (copyright ) sobre el artículo publicado y favorece y permite la difusión del mismo bajo licencia Creative Commons Reconocimiento-CompartirIgual 4.0 Internacional (CC BY-SA 4.0). Esta licencia permite copiar, usar, difundir, transmitir y exponer públicamente el artículo, siempre que siempre que se cite la autoría y la publicación inicial en Anales del Sistema Sanitario de Navarra, y se distinga la existencia de esta licencia de uso.