RESUMEN
Inborn errors of metabolism (IEM) represent a vast group of orphan genetic disorders associated with enzyme deficiencies, substrates accumulation and products depletion. For several decades, the cornerstone of life-saving therapies in IEM was based on extreme manipulations of the nutritional intakes. Such outstanding dietary engineering is still relevant today, but new therapeutic avenues have emerged last years, based on better pathophysiological understanding and technological advances. In this paper, we summarize current and new therapeutic options in the field of IEM.
Les erreurs innées du métabolisme (EIM) représentent un groupe de conditions génétiques associées à une déficience enzymatique causant une accumulation du substrat en amont de la réaction et une déficience du produit en aval. Pendant des décennies, la pierre angulaire du traitement de ces affections a été basée sur des régimes drastiquement restrictifs. Ces manipulations diététiques extrêmes sont encore aujourd'hui d'actualité, mais l'arsenal thérapeutique s'est considérablement élargi ces dernières années, basé sur de meilleures connaissances physiopathologiques et sur des progrès technologiques et pharmacologiques. Dans cet article, nous résumons les différentes stratégies et nouveautés thérapeutiques dans le domaine des erreurs innées du métabolisme.
Asunto(s)
Errores Innatos del Metabolismo , Humanos , Errores Innatos del Metabolismo/terapia , Enfermedades RarasRESUMEN
Eating disorders (EDs) are conditions which are becoming more and more widespread among adolescents and they often lead them to seek the opinion of a professional health caregiver, including gynecologists and pediatricians. EDs, and particularly anorexia nervosa (AN), are usually classified as psychological or psychiatric disorders, but they may have major somatic implications and complications as osteoporosis, nutritional deficiencies, cerebral atrophy, cardiac and metabolic disorders. A key issue in the management is prevention or reduction of both the serious somatic consequences and the important mental health consequences (e.g. depression, psychosocial withdrawal, phobia and suicide), integrating different perspectives (psychological or psychiatric - individual and familial -, genetic, nutritional, pediatric, gynecological). Adolescence is a critical period for the onset of EDs though they may also involve younger children. In this case, the consequences on the development (height, weight, puberty) can also be significant. In this review, we will focus on eating disorders in adolescent girls with an emphasis on AN. We describe variations in ED characteristics and their management depending on age at occurrence. A possible ED should be considered by pediatricians consulted about delayed female growth and puberty as well as gynecologists in patients with primary or secondary amenorrhea or infertility.