Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
7657747 | Revue Francophone des Laboratoires | 2010 | 12 Pages |
Abstract
Majority of disorders affecting aminoacid metabolism are rare diseases, most often inherited as an autosomal recessive disease, and present with metabolic disturbances and neurological manifestations; they are present at birth, but may not symptomatic for a long time or can be recognized only in adult neurology. We should suspect an inherited aminoacidopathy (IAA) in patients with neurological abnormalities especially in those patients with multisystem involvement who appear with acute symptoms leading to hospitalisation. It is of the greatest importance that the appropriate sample collection is made before starting any treatment; most emergency situations can be screened with simple test such as aminoacid chromatography. The diagnosis of a patient with an IAA is not based on a single clinical or biochemical data but rather on abnormal features taken together. Some aminoacidopathies respond to specific treatments and should be identified early particularly in emergency situation to avoid fatal outcome or irreversible neurological damage. Treatment requires restriction of dietary protein intake and the stimulation of alternative pathways. In this review, we detail most of the different disorders affecting aminoacid metabolism.
Keywords
Related Topics
Physical Sciences and Engineering
Chemistry
Analytical Chemistry
Authors
Elizabeth Thioulouse, Marie-Clotilde Berthe, Rémy Couderc,