Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of XXXX .

@entity1 @entity14952 @entity18924 @entity600 @entity51 @entity717 @entity165 @entity2246
INTRODUCTION: @entity18924 ( @entity18924 ) is a @entity600 inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of @entity14952 to @entity165 , which leads to an accumulation of @entity14952 and frequently a deficiency of @entity165 . The syndrome is characterized by typical dysmorphic facial features, @entity600 , and @entity717 . AREAS COVERED: In this paper we provide an overview of the clinical phenotype and discuss how the manifestations of the syndrome vary depending on the age of the @entity1 . We then explore the underlying biochemical defect and pathophysiological alterations that may contribute to the many disease manifestations. Subsequently we explore the epidemiology and succinctly discuss population genetics as they relate to @entity18924 . The next section presents the diagnostic possibilities. Thereafter, the treatment and management as is standard of care are presented. EXPERT OPINION: Even though the knowledge of the underlying molecular mutations and the biochemical alterations is being rapidly accumulated, there is currently no efficacious therapy addressing @entity51 . We discuss the difficulty of treating this disorder, which manifests as a combination of a @entity600 and an @entity2246 . A very important factor in developing new therapies is the need to rigorously establish efficacy in controlled trials.
