title: Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome.
abstract: We describe a similar metabolic pattern of hyperketosis, ketonaciduria, and C6-C12 dicarboxylic aciduria in a patient with the Silver-Russell syndrome and a patient with the Brachmann-de Lange syndrome. Fasting blood levels of beta-hydroxybutyrate and acetoacetate were significantly higher than in age-matched controls, and both patients showed massive urinary excretion of beta-hydroxybutyrate, acetoacetate and C6-C12 dicarboxylic acids.
authors.affiliation: Department of Pediatrics, University of Groningen, The Netherlands.
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: I
authors.initials: I
authors.lastname: Dijkstra
authors.forename: H H
authors.initials: HH
authors.lastname: Schierbeek
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
mesh_terms: D020155:3-Hydroxybutyric Acid; D000090:Acetoacetates / Q000378:metabolism; D003998:Dicarboxylic Acids / Q000652:urine; D005147:Facial Bones / Q000002:abnormalities; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism; D007223:Infant; D008297:Male; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
chemical_list: D000090:Acetoacetates; D003998:Dicarboxylic Acids; D005227:Fatty Acids; D006885:Hydroxybutyrates; C016635:acetoacetic acid; D020155:3-Hydroxybutyric Acid