The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation

• 資料種別: 記事
• タイトル: The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
• 著者標目: Toshiyuki Fukao; Kazuhisa Akiba; Masahiro Goto; Nobuki Kuwayama; Mikiko Morita; Tomohiro Hori; Yuka Aoyama; Rajaram Venkatesan; Rik Wierenga; Yohsuke Moriyama; Takashi Hashimoto; Nobuteru Usuda; Kei Murayama; Akira Ohtake; Yuki Hasegawa; Yosuke Shigematsu; Yukihiro Hasegawa
• 出版年月日等: 2014-09-18
• 出版年（W3CDTF）: 2014-09-18
• タイトル（掲載誌）: Journal of Human Genetics
• 巻号年月日等（掲載誌）: 59 11
• 掲載巻: 59
• 掲載号: 11
• 掲載ページ: 609-614
• 掲載年月日（W3CDTF）: 2014-09-18
• ISSN（掲載誌）: 14345161
• 出版事項（掲載誌）: Springer Science and Business Media LLC
• 件名標目: Male; Models, Molecular; DNA Mutational Analysis; Immunoblotting; Glycine; Hydroxybutyrates; Lipid Metabolism, Inborn Errors; Diagnosis, Differential; Carnitine; Humans; Point Mutation; Acetyl-CoA C-Acetyltransferase; Child; Dyskinesias; Base Sequence; 3-Hydroxyacyl CoA Dehydrogenases; Fibroblasts; Mitochondria; Protein Structure, Tertiary; Mental Retardation, X-Linked
• 対象利用者: 一般
• 標準番号（その他）: PMID : 25231369
• DOI: 10.1038/jhg.2014.79; https://doi.org/10.1038/jhg.2014.79
• 作成日（W3CDTF）: 2014-09-18
• オンライン閲覧公開範囲: インターネット公開
• 著作権情報: http://www.springer.com/tdm
• 関連情報（URI）: http://www.nature.com/articles/jhg201479.pdf; http://www.nature.com/articles/jhg201479
• 参照: Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression; https://cir.nii.ac.jp/crid/1360285705357375360; Inborn errors of ketone body utilization; https://cir.nii.ac.jp/crid/1360846643283919744
• 参照: 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; https://cir.nii.ac.jp/crid/1360011144857548672; RNase P without RNA: Identification and Functional Reconstitution of the Human Mitochondrial tRNA Processing Enzyme; https://cir.nii.ac.jp/crid/1360574092894317952; HSD17B10: A gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids; https://cir.nii.ac.jp/crid/1360574095039505536; A non‐enzymatic function of 17β‐hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival; https://cir.nii.ac.jp/crid/1360574095339879552; Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form; https://cir.nii.ac.jp/crid/1361137044476773888; Multiple functions of type 10 17β-hydroxysteroid dehydrogenase; https://cir.nii.ac.jp/crid/1361137044504611712; 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene; https://cir.nii.ac.jp/crid/1361699993759092480; Mental retardation linked to mutations in the <i>HSD17B10</i> gene interfering with neurosteroid and isoleucine metabolism; https://cir.nii.ac.jp/crid/1361981468648491648; NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency; https://cir.nii.ac.jp/crid/1361981469156704768; 2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man; https://cir.nii.ac.jp/crid/1361981469170007296; The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative; https://cir.nii.ac.jp/crid/1361981469204911104; Hydroxysteroid (17β) dehydrogenase X in human health and disease; https://cir.nii.ac.jp/crid/1361981470097503744; Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts; https://cir.nii.ac.jp/crid/1361981470931720448; 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease; https://cir.nii.ac.jp/crid/1361981471025446144; 3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency; https://cir.nii.ac.jp/crid/1362262943548202880; Clinical variability in 3‐hydroxy‐2‐methylbutyryl‐coa dehydrogenase deficiency; https://cir.nii.ac.jp/crid/1362262945625033728; Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism; https://cir.nii.ac.jp/crid/1362262945714229632; Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases; https://cir.nii.ac.jp/crid/1362544419621294464; Neuroimage Findings in 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency; https://cir.nii.ac.jp/crid/1362544420497716480; Diagnostic criteria for respiratory chain disorders in adults and children; https://cir.nii.ac.jp/crid/1362544421402911104; HSD10 disease: clinical consequences of mutations in the <i>HSD17B10</i> gene; https://cir.nii.ac.jp/crid/1362825895194586240; 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease; https://cir.nii.ac.jp/crid/1362825895553623680; The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior; https://cir.nii.ac.jp/crid/1363107368438604416; Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency; https://cir.nii.ac.jp/crid/1363107370480985728; Respiratory chain complex I deficiency; https://cir.nii.ac.jp/crid/1363107371154222976; The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients; https://cir.nii.ac.jp/crid/1363388843804067456; A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability; https://cir.nii.ac.jp/crid/1363388844358645760; X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency; https://cir.nii.ac.jp/crid/1363951794953792128; Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis; https://cir.nii.ac.jp/crid/1364233269470230272; Structure of Bacterial 3β/17β-Hydroxysteroid Dehydrogenase at 1.2 Å Resolution: A Model for Multiple Steroid Recognition^,; https://cir.nii.ac.jp/crid/1364233269521287040
• 連携機関・データベース: 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• 提供元機関・データベース: Crossref; https://www.crossref.org; 科学研究費助成事業データベース; https://kaken.nii.ac.jp/ja

• 要約等: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency (HSD10 disease) is a rare inborn error of metabolism, and30 cases have been reported w...