title: [Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia].
abstract: Regarding a case of beta-ketothiolase deficiency revealed by ketoacidosis with hyperglycinemia, the authors show the way to diagnose and to treat this disease. Ketoacidosis without hyperglycemia or lactacidemia suggested this diagnosis. Gas chromatography-mass-spectrography revealed unusual urinary excretion of metabolic products of isoleucine. The enzymological study of fibroblasts confirmed the diagnosis. The treatment of acute episodes consisted of acidosis control and exclusive glucides intake before diagnosis. Afterwards, a controlled proditic diet and L-carnitine must be given and fasting must be avoided.
authors.affiliation: Service néonatal, hôpital Pellegrin, Bordeaux, France.
authors.forename: C
authors.initials: C
authors.lastname: Elleau
authors.forename: F
authors.initials: F
authors.lastname: Parrot-Roulaud
authors.forename: Y
authors.initials: Y
authors.lastname: Perel
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: M T
authors.initials: MT
authors.lastname: Zabot
authors.forename: R
authors.initials: R
authors.lastname: Middleton
authors.forename: J M
authors.initials: JM
authors.lastname: Guillard
mesh_terms: D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency* / Q000378:metabolism; D005260:Female; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000150:complications*; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000628:therapy
chemical_list: D000102:Acetyl-CoA C-Acyltransferase; D005998:Glycine
vernacular_title: Déficit en bêta cétothiolase: un cas d'acidocétose avec hyperglycinémie.