title: Biotin and Rett syndrome.
abstract: A protein load with an ensuing 20 hr fast was performed to assess the function of biotin dependent carboxylases in 3 girls with Rett syndrome. In plasma a moderate increase of ammonia and propionate was found. The fact that these discrete biochemical alterations were found in all of the patients supports earlier conclusions that further studies on biotin metabolism and carboxylase function should be performed, perhaps preferably in cerebrospinal fluid.
mesh_terms: D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000097:blood; D001710:Biotin / Q000378:metabolism*; D002262:Carboxy-Lyases / Q000097:blood; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000378:metabolism*; D043586:Methylmalonyl-CoA Decarboxylase; D009069:Movement Disorders / Q000201:enzymology / Q000378:metabolism*; D011766:Pyruvate Carboxylase / Q000097:blood; D013577:Syndrome
chemical_list: D000596:Amino Acids; D001710:Biotin; D000641:Ammonia; D002262:Carboxy-Lyases; D011766:Pyruvate Carboxylase; D043586:Methylmalonyl-CoA Decarboxylase