Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1-Reference-Cited by-同舟云学术

Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1

Published:2011 Issue: Volume: Page:107-115
ISSN:2192-8304
Container-title:JIMD Reports
language:
Short-container-title:

Author:

Fukao Toshiyuki,Maruyama Shinsuke,Ohura Toshihiro,Hasegawa Yuki,Toyoshima Mitsuo,Haapalainen Antti M.,Kuwada Naomi,Imamura Mari,Yuasa Isao,Wierenga Rik K.,Yamaguchi Seiji,Kondo Naomi

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2011_72

Reference25 articles.

1. Daum RS, Lamm PH, Mamer OA, Scriver CR (1971) A “new” disorder of isoleucine catabolism. Lancet 2:1289–1290

2. Fukao T, Yamaguchi S, Kano M et al (1990) Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. J Clin Invest 86:2086–2092

3. Fukao T, Yamaguchi S, Orii T, Hashimoto T (1995) Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat 5:113–120

4. Fukao T, Song XQ, Mitchell GA et al (1997) Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res 42:498–502

5. Fukao T, Nakamura H, Song XQ et al (1998) Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Hum Mutat 12:245–254

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Disorders of Ketone Body Metabolism and Transport;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

2. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways;Orphanet Journal of Rare Diseases;2020-04-28

3. A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis;Indian Journal of Clinical Biochemistry;2019-09-16

4. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency;Human Mutation;2019-07-03

5. Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China;Frontiers in Genetics;2019-05-15