title: Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
abstract: Beta-ketothiolase deficiency, or mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is a rare autosomal recessive disorder affecting isoleucine catabolism and ketone body metabolism. A patient from South India presented with acute ketoacidosis at 11 months of age. During the acute crisis the C5OH (2-methyl-3-hydroxybutyryl) carnitine and C5:1 (tiglyl) carnitine were elevated and large amounts of 2-methyl-3-hydroxybutyrate, tiglylglycine, and 2-methylacetoacetate were excreted. Brain CT showed bilateral basal ganglia lesions. Potassium ion-activated acetoacetyl-CoA thiolase activity was deficient in the patient's fibroblasts. The patient is a homozygote for a novel c.578T>G (M193R) mutation. This is the first report of T2 deficiency confirmed by enzyme and molecular analysis from India.
authors: Department of Pediatric Neurology and Metabolic Medicine, Rainbow Hospital for Women and Children, Hyderabad, India.
authors: Radha Rama Devi
authors: RR
authors: Akella
authors: Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan.
authors: Yuka
authors: Y
authors: Aoyama
authors: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors: Chihiro
authors: C
authors: Mori
authors: Department of Pediatric Neurology and Metabolic Medicine, Rainbow Hospital for Women and Children, Hyderabad, India.
authors: Lokesh
authors: L
authors: Lingappa
authors: Neogen Laboratories, Bengaluru, India.
authors: Rohit
authors: R
authors: Cariappa
authors: Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address: toshi-gif@umin.net.
authors: Toshiyuki
authors: T
authors: Fukao
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000235:genetics / Q000378:metabolism; D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000378:metabolism; D001921:Brain / Q000000981:diagnostic imaging; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D009154:Mutation; D014057:Tomography, X-Ray Computed
chemical_list: D000102:Acetyl-CoA C-Acyltransferase; C506639:ACAT1 protein, human; D000101:Acetyl-CoA C-Acetyltransferase
keywords: 2-Methyl-3-hydroxybutyrate; ACAT1; C5OH; Ketoacidosis; T2 deficiency; Tiglylglycine