A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure
スポンサーリンク
概要
- 論文の詳細を見る
We report an adult case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by episodic recurrent rhabdomyolysis and acute renal failure after the age of 46. Muscle biopsy revealed lipid storage myopathy and the finding of serum acylcarnitine and urine organic acid analyses were consistent with MADD. A compound heterozygous mutation was identified in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene, including a novel missense mutation, which confirmed the diagnosis of MADD. After administration of riboflavin and L-carnitine, the muscle weakness and fatigability gradually improved. Acylcarnitine and urine organic acid were also normalized after supplementation. Thus, MADD should be included in one of the differential diagnoses for adult recurrent rhabdomyolysis. Gene analysis is useful to confirm the diagnosis, and early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.
著者
-
Suzuki Naoki
Department Of Cardiology Tokushima Red Cross Hospital
-
Tateyama Maki
Department Of Neurology Tohoku University School Of Medicine
-
Abe Yu
Department Of Applied Biochemistry Tokai University
-
Hasegawa Takafumi
Department Of Neurology Tohoku University School Of Medicine
-
Mochizuki Hiroshi
Department Of Fermentation Technology Faculty Of Engineering Hiroshima University
-
Saito Yuka
Department of Chemical and Environmental Engineering, Graduate School of Engineering, Gunma University
-
Aoki Masashi
Department of Electrical and Electronic Engineering, National Defense Academy, 1-10-20 Hashirimizu, Yokosuka, Kanagawa 239-8686, Japan
-
Saito Yuka
Department of Medical Genetics, Tohoku University School of Medicine, Japan
-
Izumi Rumiko
Department of Neurology, Tohoku University School of Medicine, Japan
-
Nagata Mari
Department of Neurology, Tohoku University School of Medicine, Japan
-
Hasegawa Takafumi
Department of Neurology, Tohoku University School of Medicine, Japan
-
Mochizuki Hiroshi
Department of Neurology, South Miyagi Medical Center, Japan
-
Suzuki Naoki
Department of Neurology, Tohoku University School of Medicine, Japan
関連論文
- Relationship of Admission Neutrophil Count to Microvascular Injury, Left Ventricular Dilation, and Long-Term Outcome in Patients Treated With Primary Angioplasty for Acute Myocardial Infarction
- PJ-844 Improvement of insulin resistance reduces drug-eluting stent restenosis(Diabetes / Obesity / Metabolic syndrome(16)(H),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-770 The Impact of Gender Difference in the Effects of Preinfarction Angina on Ventricular Remodeling with Reperfused Myocardial Infarction(Acute myocardial infarction, clinical(pathophysiology)(03)(IHD),Poster Session(Japanese),The 72nd Annual Scientif
- PJ-574 Impact of Changes of Endothelial Function on Adverse Cardiovascular Events after Acute Coronary Syndromes(Acute coronary syndrome, basic/clinical(05)(IHD),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Socie
- PJ-246 Impact of Male Gender on Long-term Outcome in Patients with Tako-tsubo Cardiomyopathy(Cardiomyopathy, basic/clinical(05)(M),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-742 Which is Better, Ostial or Crossover Stenting With Sirolimus-Eluting Stent for the Treatment of Ostial Left Anterior Descending Artery Lesions?(Coronary revascularization, PCI-20, The 71st Annual Scientific Meeting of the Japanese Circulation Socie
- PJ-179 The Impact of Gender Difference in the Effects of Preinfarction Angina on Recovery of Contractile Function with Reperfused Myocardial Infarction(Acute myocardial infarction, clinical (pathophysiology)-5, The 71st Annual Scientific Meeting of the Ja
- PJ-021 Which White Blood Cell Subtypes Predict Microvascular Injury after Successful Primary Angioplasty for Acute Myocardial Infarction?(Acute myocardial infarction, clinical (pathophysiology)-4, The 71st Annual Scientific Meeting of the Japanese Circula
- PJ-007 Distal Protection Reduced Onset of Heart Failure at Chronic State in Patients with Reperfused Anterior Myocardial Infarction(Acute myocardial infarction, clinical (diagnosis/treatment)-5, The 71st Annual Scientific Meeting of the Japanese Circulati
- OJ-118 Waist Circumference Reduction, not Body Mass Index, Improves Endothelial-Dependent Vasodilatation After Acute Coronary Syndrome(Diabetes/Obesity/Metabolic syndrome-03, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- Reduced Coronary Flow Reserve of the Non-infarct Related Artery in Patients With Acute Myocardial Infarction Assessed by Transthoracic Doppler Echocardiography
- OE-231 Coronary Flow Velocity Pattern Versus Coronary Flow Reserve for Predicting Functional Recovery After Primary Coronary Stenting for Acute Myocardial Infarction(Acute myocardial infarction, clinical (pathophysiology)-1 (IHD) OE39,Oral Presentation (E
- Left Ventricular Free Wall Rupture in Transient Left Ventricular Apical Ballooning
- Does Pericardial Effusion Affect Microrvascular Damage?(Acute Myocardial Infarction, Clinical (Pathophysiology) 5 (IHD), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-770 The Impact of Gender Difference in the Effects of Preinfarction Angina on Ventricular Remodeling with Reperfused Myocardial Infarction(Acute myocardial infarction, clinical(pathophysiology)(03)(IHD),Poster Session(Japanese),The 72nd Annual Scientif
- PJ-574 Impact of Changes of Endothelial Function on Adverse Cardiovascular Events after Acute Coronary Syndromes(Acute coronary syndrome, basic/clinical(05)(IHD),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Socie
- PJ-742 Which is Better, Ostial or Crossover Stenting With Sirolimus-Eluting Stent for the Treatment of Ostial Left Anterior Descending Artery Lesions?(Coronary revascularization, PCI-20, The 71st Annual Scientific Meeting of the Japanese Circulation Socie
- PJ-179 The Impact of Gender Difference in the Effects of Preinfarction Angina on Recovery of Contractile Function with Reperfused Myocardial Infarction(Acute myocardial infarction, clinical (pathophysiology)-5, The 71st Annual Scientific Meeting of the Ja
- PJ-021 Which White Blood Cell Subtypes Predict Microvascular Injury after Successful Primary Angioplasty for Acute Myocardial Infarction?(Acute myocardial infarction, clinical (pathophysiology)-4, The 71st Annual Scientific Meeting of the Japanese Circula
- PJ-007 Distal Protection Reduced Onset of Heart Failure at Chronic State in Patients with Reperfused Anterior Myocardial Infarction(Acute myocardial infarction, clinical (diagnosis/treatment)-5, The 71st Annual Scientific Meeting of the Japanese Circulati
- PJ-147 Impact of Plasma Adiponectin Level on Left Ventricular Hypertrophy in Patients with Type 2 Diabetes Mellitus(Diabetes/Obesity/Metabolic syndrome-10 (H) PJ25,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japanese Ci
- OE-231 Coronary Flow Velocity Pattern Versus Coronary Flow Reserve for Predicting Functional Recovery After Primary Coronary Stenting for Acute Myocardial Infarction(Acute myocardial infarction, clinical (pathophysiology)-1 (IHD) OE39,Oral Presentation (E
- Coronary Flow Reserve of the Non-infarct Related, Angiographically Normal Left Anterior Descending Coronary Artery in Patients with Acute Myocardial Infarction (Coronary Circulation, Basic/Clinical 6 (IHD), The 69th Annual Scientific Meeting of the Japane
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- A Case of Marchiafava-Bignami Disease with Complete Recovery : Sequential Imaging Documenting Improvement of Callosal Lesions
- PJ-545 Relation of admission white blood cell count to microvascular perfusion after successful primary angioplasty for acute myocardial infarction(Myocardial Ischemia-Reperfusion, Basic and Clinical 3 (M) : PJ91)(Poster Session (Japanese))
- PJ-247 Adjunctive distal embolic protection should be performed during primary coronary angioplasty for acute myocardial infarction with right coronary artery(Acute Myocardial Infarction, Clinical (Diagnosis/Treatment) 10 (IHD) : PJ42)(Poster Session (Jap
- PJ-104 The Efficacy of Using Tapered-Tip Guidewires for Long Chronic Total Occlusion (>20mm)(Coronary Revascularization, PTCA/Stent/DCA/Rotablator/New Device 5 (IHD) : PJ18)(Poster Session (Japanese))
- PE-356 Long-term Nitrate Therapy Induce Coronary Endothelial Dysunction and Tolerance to Nitroglycerin in Patients with Myocardial Infarction(Cardiovascular Pharmacology, Basic/Clinical 4 (H) : PE61)(Poster Session (English))
- PE-338 Effect of Pre-Infarction Angina on Microvascular Damage After Primary Coronary Angioplasty for Acute Myocardial Infarction(Acute Myocardial Infarction, Clinical (Pathophysiology) 7 (IHD) : PE58)(Poster Session (English))
- OJ-025 Effect of Distal Protection Device on Microvascular Damage is Lost in Patients With Hyperglycemia After Reperfused Acute Myocardial Infarction(Acute Myocardial Infarction, Clinical (Diagnosis/Treatment) 1 (IHD) : OJ4)(Oral Presentation (Japanese))
- The Predictors of Re-Restenosis after Cutting Balloon Angioplasty for In-Stent Restenosis-Second Strategy for Re-Restenosis?
- Impact of Time to Reperfusion on Microvascular Damage after Primary Coronary Angioplasty for Acute Myocardial Infarction
- Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis
- Dysferlinopathy associated with rigid spine syndrome
- OE-251 Coronary Flow Reserve Immediately after Primary Coronary Stenting for Acute Myocardial Infarction Predicts Long-Term Adverse Cardiac Events(Acute myocardial infarction, clinical (pathophysiology)-1, The 71st Annual Scientific Meeting of the Japanes
- Relationship Between Initial Neutrophil Counts and Microvascular Injury After Primary Coronary Angioplasty for Acute Myocardial Infarction(Acute Myocardial Infarction, Clinical (Pathophysiology) 6 (IHD), The 69th Annual Scientific Meeting of the Japanese
- Distal Protection Device is More Useful in Large Vessel Patients of Acute Myocardial Infarction for Reduce Microvascular Damages(Acute Myocardial Infarction, Clinical (Diagnosis/Treatment) 11 (IHD), The 69th Annual Scientific Meeting of the Japanese Circu
- Coronary Artery Endothelial Dysfunction in Patients with Normal Coronary Artery and Sleep Apnea Syndrome(Sleep Apnea and Cardiovascular Disease (M), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- Cholesterol Embolic Disease Presenting as Renal Failure with Acute Pancreatitis
- Ribosomal Resistance to Streptomycin in Strains Regenerated from Protoplasts of a Streptomycin-Susceptible Mutant Derived from a Streptomycin Producer
- Quantitative estimation of the predation of marine ranched striped jack Pseudocaranx dentex by herons
- Dispersion processes of the ranched striped jack Pseudocaranx dentex after release
- Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome
- Analysis of Aldehyde Dehydrogenase 2 Gene Polymorphism and Ethanol Patch Test as a Screening Method for Alcohol Sensitivity
- Angiotensin Converting Enzyme Gene Polymorphism and Its Enzyme Activity in Serum in Young Japanese Females
- Models for forecasting sandfish catch in the coastal waters off Akita Prefecture and the evaluation of the effect of a 3-year fishery closure
- In Vitro Selection of a DNA Ligand that Selectively Binds to the Anticancer Agent Methotrexate
- Genetic Variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS Genes in Japanese Individuals
- Underediting of GluR2 mRNA, a neuronal death inducing molecular change in sporadic ALS, does not occur in motor neurons in ALS1 or SBMA
- S-V-3 Neuronal nitric oxide synthase (nNOS) is a regulator of skeletal muscle mass(The Proceedings of the 17th Annual Meetings of Japan Society of Exercise and Sports Physiology Jury 25-26, (Tokyo))
- Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL)
- Familial Inclusion Body Myositis : A Report on Two Japanese Sisters
- Hydrofluoric-Treated GaAs Surfaces Analyzed by Contact Angle Measurement and Auger Electron Spectroscopy
- Contribution of Complement Component C3 and Complement Receptor Type 3 to Carbohydrate-dependent Uptake of Oligomannose-coated Liposomes by Peritoneal Macrophages
- Diffuse neuroaxonal leukodystrophy with spheroids of adult onset: MRI and pathological studies
- A Clinical Trial of Therapeutic Electrical Stimulation for Amyotrophic Lateral Sclerosis
- Relationship between sea-surface temperature and catch fluctuations in the Pacific stock of walleye pollock in Japan
- Rapid Screening for Japanese Dysferlinopathy by Fluorescent Primer Extension
- Development of a rat model of amyotrophic lateral sclerosis expressing a human SOD1 transgene
- Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
- Follicular lymphoma with marked infiltration of eosinophils
- B301 APPLICATION OF RAIL TRANSMISSION TECHNOLOGY TO RAILWAY SIGNALS USING SPREAD SPECTRUM COMMUNICATION TECHNOLOGY
- Up-Regulation of Insulin-Like Growth Factor-II Receptor in Reactive Astrocytes in the Spinal Cord of Amyotrophic Lateral Sclerosis Transgenic Rats
- Therapeutic Efficacy of Transcranial Magnetic Stimulation for Hereditary Spinocerebellar Degeneration
- Comparison of Magnetic Resonance Imaging and Computed Tomogram-Myelography for Evaluation of Cross Sections of Cervical Spinal Morphology
- Shell growth and age determination of the brackish water bivalve Corbicula japonica in Lake Shinji, Japan
- Proposal for stock-recruitment relationship for Japanese sardine Sardinops melanostictus in North-western Pacific
- A Management Policy for the Scoop Nets Fishery of Ayu Population in Lake Biwa
- Relation of Recruitment to the Number of Caught Juveniles in the Ayu Population of Lake Biwa
- Net Profit and Marginal Net Profit in the Scoop Net Fishery of Ayu Population in Lake Biwa
- Vincristine-resistant Kasabach-Merritt phenomenon successfully treated with low-dose radiotherapy
- Herpes Labialis in Multiple Sclerosis with a Trigeminal Lesion
- Effects of process and/or observation errors on the stock-recruitment curve and the validity of the proportional model as a stock-recruitment relationship
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- HyperCKemia Related to the Initial and Recurrent Attacks of Neuromyelitis Optica
- FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion
- Cerebrospinal Nematodiasis as a Provoking Factor in Japanese Encephalitis : An Experimental Approach (II)
- A Case Report on Periarteritis Nodosa of a Cow
- Catalytic activity of yeast extract in biofuel cell(BIOCHEMICAL ENGINEERING)
- A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure
- Neutralizing Antibodies Are Associated with a Reduction of Interferon-β Efficacy during the Treatment of Japanese Multiple Sclerosis Patients
- Evaluation of Nematic Liquid Crystal Director Orientation in Vicinity of Glass Substrate Using Shear Horizontal Wave Propagation
- Dynamic Response of Shear Horizontal Wave Propagating in Liquid Crystal Cell to Molecular Reorientation
- Bone-anchored sling using the Mini Quick Anchor Plus and polypropylene mesh to treat post-radical prostatectomy incontinence : Early experience
- T2-hyperintensity of the Middle Cerebellar Peduncles in a Patient with SCA7
- Responses to Hemodynamic Stress in the Aged Heart.
- Effects of Colistin on the Cells of a Colistin-producer
- Catalytic activity of yeast extract in biofuel cell
- Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure