title: [Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria].
abstract: 3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy was reported. The patient was a 7-year-old boy. He presented with progressive headache, drowsiness and vomiting. Hepatic lesions, ketosis and leucopenia were found. Symmetrical diffused leucodystrophy was shown by MRI. Blood levels of isovalerylcarnitine and acetylcarnitine increased significantly. Urinary levels of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-hydroxyglutaric acids and 3-methyl-crotonylglycine increased significantly. Symptoms were released by intravenous infusion of L-carnitine and glucose. After treatment for 6 months, urinary levels of 3-hydroxy-3-methylglutaric aciduria decreased in the boy and his health improved.
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Peking University, Beijing 100034, China.
authors.forename: Yan-Yan
authors.initials: YY
authors.lastname: Ma
authors.forename: Jin-Qing
authors.initials: JQ
authors.lastname: Song
authors.forename: Tong-Fei
authors.initials: TF
authors.lastname: Wu
authors.forename: Yu-Peng
authors.initials: YP
authors.lastname: Liu
authors.forename: Jiang-Xi
authors.initials: JX
authors.lastname: Xiao
authors.forename: Yu-Wu
authors.initials: YW
authors.lastname: Jiang
authors.forename: Yan-Ling
authors.initials: YL
authors.lastname: Yang
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D002648:Child; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008297:Male
chemical_list: D000101:Acetyl-CoA C-Acetyltransferase