Literature DB >> 4143539

A "new" disorder of isoleucine catabolism.

R S Daum, P H Lamm, O A Mamer, C R Scriver.   

Abstract

A disorder of isoleucine catabolism was found in a child with intermittent metabolic acidosis. The block occurs at the stage of propionate synthesis, and two intermediates--alpha-methylacetoacetate and alpha-methyl-beta-hydroxybutyrate--accumulate. The condition is apparently inherited.

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Year:  1971        PMID： 4143539     DOI： 10.1016/s0140-6736(71)90605-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  26 in total

1.  Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.

Authors:  T Fukao; S Yamaguchi; A Wakazono; H Okamoto; T Orii; T Osumi; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.

Authors:  T Kuwahara; T Fukao; M Kano; S Yamaguchi; T Orii; T Hashimoto
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

3.  Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.

Authors:  Toshiyuki Fukao; Shinsuke Maruyama; Toshihiro Ohura; Yuki Hasegawa; Mitsuo Toyoshima; Antti M Haapalainen; Naomi Kuwada; Mari Imamura; Isao Yuasa; Rik K Wierenga; Seiji Yamaguchi; Naomi Kondo
Journal:  JIMD Rep       Date:  2011-09-06

4.  3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.

Authors:  H Nagasawa; S Yamaguchi; T Orii; R B Schutgens; L Sweetman; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 5.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

Review 6.  Inborn errors of metabolism: principles and their applications.

Authors:  L Pinksy
Journal:  Can Med Assoc J       Date:  1972-03-18       Impact factor: 8.262

7.  Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Authors:  Monica H Wojcik; Klaas J Wierenga; Lance H Rodan; Inderneel Sahai; Sacha Ferdinandusse; Casie A Genetti; Meghan C Towne; Roy W A Peake; Philip M James; Alan H Beggs; Catherine A Brownstein; Gerard T Berry; Pankaj B Agrawal
Journal:  JIMD Rep       Date:  2017-07-20

8.  The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.

Authors:  T Fukao; G X Zhang; N Sakura; T Kubo; H Yamaga; A Hazama; Y Kohno; N Matsuo; M Kondo; S Yamaguchi; Y Shigematsu; N Kondo
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 9.  Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.

Authors:  O Søvik
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

10.  Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.

Authors:  H Przyrembel; H J Bremer; M Duran; L Bruinvis; D Ketting; S K Wadman; R Baumgartner; U Irle; C Bachmann
Journal:  Eur J Pediatr       Date:  1979-01-18       Impact factor: 3.183
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