[Inborn errors of metabolism as rare diseases with a specific global situation]. / Los errores congénitos del metabolismo como enfermedades raras con un planteamiento global específico.
An Sist Sanit Navar
; 31 Suppl 2: 55-73, 2008.
Article
de Es
| MEDLINE
| ID: mdl-18953372
ABSTRACT
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.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Maladies rares
/
Erreurs innées du métabolisme
Type d'étude:
Diagnostic_studies
Limites:
Humans
Langue:
Es
Journal:
An Sist Sanit Navar
Sujet du journal:
SAUDE PUBLICA
Année:
2008
Type de document:
Article
Pays d'affiliation:
Espagne