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Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
Brain Dev 2014; 36(6):537-40BD

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+Show Affiliations

Department of Pediatric Neurology and Metabolic Medicine, Rainbow Hospital for Women and Children, Hyderabad, India.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.Department of Pediatric Neurology and Metabolic Medicine, Rainbow Hospital for Women and Children, Hyderabad, India.Neogen Laboratories, Bengaluru, India.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.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23958592

Citation

Akella, Radha Rama Devi, et al. "Metabolic Encephalopathy in Beta-ketothiolase Deficiency: the First Report From India." Brain & Development, vol. 36, no. 6, 2014, pp. 537-40.
Akella RR, Aoyama Y, Mori C, et al. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. Brain Dev. 2014;36(6):537-40.
Akella, R. R., Aoyama, Y., Mori, C., Lingappa, L., Cariappa, R., & Fukao, T. (2014). Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. Brain & Development, 36(6), pp. 537-40. doi:10.1016/j.braindev.2013.07.007.
Akella RR, et al. Metabolic Encephalopathy in Beta-ketothiolase Deficiency: the First Report From India. Brain Dev. 2014;36(6):537-40. PubMed PMID: 23958592.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. AU - Akella,Radha Rama Devi, AU - Aoyama,Yuka, AU - Mori,Chihiro, AU - Lingappa,Lokesh, AU - Cariappa,Rohit, AU - Fukao,Toshiyuki, Y1 - 2013/08/16/ PY - 2013/06/30/received PY - 2013/07/22/revised PY - 2013/07/22/accepted PY - 2013/8/21/entrez PY - 2013/8/21/pubmed PY - 2015/1/13/medline KW - 2-Methyl-3-hydroxybutyrate KW - ACAT1 KW - C5OH KW - Ketoacidosis KW - T2 deficiency KW - Tiglylglycine SP - 537 EP - 40 JF - Brain & development JO - Brain Dev. VL - 36 IS - 6 N2 - 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. SN - 1872-7131 UR - https://www.unboundmedicine.com/medline/citation/23958592/Metabolic_encephalopathy_in_beta_ketothiolase_deficiency:_the_first_report_from_India_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0387-7604(13)00228-3 DB - PRIME DP - Unbound Medicine ER -