A5039826795- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Respiratory viral infections research
- Hematopoietic Stem Cell Transplantation
- Neonatal Health and Biochemistry
- Biochemical and Molecular Research
- Organ Transplantation Techniques and Outcomes
- Glycogen Storage Diseases and Myoclonus
- Peroxisome Proliferator-Activated Receptors
- Amino Acid Enzymes and Metabolism
- Pancreatic function and diabetes
- Congenital Diaphragmatic Hernia Studies
- Diet and metabolism studies
- Tracheal and airway disorders
- Lysosomal Storage Disorders Research
- Viral gastroenteritis research and epidemiology
- ATP Synthase and ATPases Research
- Neurological disorders and treatments
- Folate and B Vitamins Research
- Immune Cell Function and Interaction
- Cytomegalovirus and herpesvirus research
- Diabetes and associated disorders
- Muscle metabolism and nutrition
- Gout, Hyperuricemia, Uric Acid
- Autoimmune Neurological Disorders and Treatments
Surugadai Nihon University Hospital
2025
Center for Inherited Blood Disorders
2024
Nihon University
2012-2024
Nippon Bunri University
2014-2015
Tokyo University of Science
2008
Abstract Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It clinically diagnosed by typical manifestations characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS essential for deeper understanding the disease, which may lead to development new therapies cure. The aim this study was evaluate clinical validity various diagnostic tools in...
Abstract Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition patients crucial for evaluating therapeutics. As data are scarce Japan, we analysed rate Japanese that diagnosed since 2007. Data from 166 with 2007 to 2017 were reviewed. Patients' present status, method ventilation feeding, degree disability as April 2018 was analysed. Overall, 124 (74.7%) living, 40 (24.1%)...
Kasahara M, Sakamoto S, Kanazawa H, Karaki C, Kakiuchi T, Shigeta Fukuda A, Kosaki R, Nakazawa Ishige Nagao Shigematsu Y, Yorifuji Naiki Horikawa R. Living‐donor liver transplantation for propionic acidemia. Abstract: Propionic acidemia is a rare autosomal recessive disorder affecting the catabolism of branched‐chain amino acids because genetic defect in PCC. Despite improvements medical treatment with protein restriction, sufficient caloric intake, supplementation l ‐carnitine, and...
Glycogen storage diseases (GSDs) are rare, inherited disorders of glycogen metabolism caused by a deficiency enzymes or transporters. GSDs involve the liver, kidneys, skeletal muscles, and heart children young adults. The complications involving these organs affect prognosis patients with GSDs. Magnetic resonance imaging (MRI) is useful for identifying monitoring response to treatments owing its ability tissue characterization lack need ionizing radiation. This pictorial review describes MRI...
Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on vitro FAO capacity has been reported, vivo remains controversial. Therefore, we conducted clinical trial bezafibrate Japanese patients with FAODs.This was an open-label, non-randomized, and multicenter study treatment 6 very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency 2 carnitine...
Abstract PC is produced in the liver and inhibits blood coagulation by catalyzing active factors V VIII . deficiency causes abnormal clotting that difficult to regulate anticoagulative treatments. Four reports of treated with LTx have been published; however, no report DLT as a therapy for available. We describe case 23‐month‐old girl who received compound heterozygous deficiency. Her activity was below 5%. She developed intracranial lesion frequent refractory purpura fulminans. Both her...
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 understand present status of UCD patients in Japan regarding diagnosis, treatments, outcomes. A total 229 with UCDs (126 patients: ornithine transcarbamylase deficiency [OTCD]; 33: carbamoyl phosphate synthetase 1 [CPS1D]; 48: argininosuccinate [ASSD]; 14: lyase [ASLD]; 8:...
Abstract A total of 216 patients with IEM were treated by allogeneic HSCT in Japan from 1985 until 2010. The results UCBT have improved, and the OS rate (81.9%) was not different those RBMT (87.2%) or UBMT (73.9%) 2000–2010. However, EFS rates (73.2%) (62.2%) better than that (49.5%), difference between significant (p = 0.01). conditioned RIC (74.6%) comparable slightly who underwent MAC irradiation (57.9%) without (54.2%) more pronounced trend observed toward differential for 2000–2010:...
Pediatric patients with certain rare diseases are at increased risk of severe respiratory syncytial virus (RSV) infection. However, the prophylactic use anti-RSV antibody (palivizumab) in these is not indicated present Japan.
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency is an autosomal recessive disorder affecting the leucine catabolic pathway and ketone body synthesis, clinically characterized by metabolic crises with hypoketotic hypoglycemia, acidosis hyperammonemia. In present study, we initially used PCR genomic followed direct sequencing to investigate molecular genetic basis of HMGCL in two patients diagnosed condition. Although identified a mutation each patient, inheritance...
Fatty acid oxidation disorders (FAODs) are rare diseases caused by a defective mitochondrial fatty (FAO) enzyme. We recently reported that bezafibrate improved patient quality of life (QOL) based on the SF-36 questionnaire score in patients with FAODs during 50-week, open-label, clinical trial. Herein we conducted further survey assessments trial to define long-term efficacy and safety bezafibrate. This was an non-randomized, multicenter study treatment five very long-chain acyl-CoA...
Congenital metabolic diseases are a group of hereditary disorders caused by the deficiency single specific enzyme activity. Without appropriate therapy, affected patients suffer severe neurologic disability and eventual death. The current mainstays management attempt to slow disease progression, but not curative. Several these have demonstrated significant benefits from liver transplantation; however, this approach is limited morbidity associated with invasive procedure shortage donor...
Neonatal mitochondrial disease is occasionally observed in patients with intraventricular cysts the brain. Atypical morphology rarely seen these cysts. Here, we report a case of neonatal lethal IBA57 gene mutation. We have, for first time, described subependymal pseudocyst (SEPC) fluctuating membrane. Our findings suggest that SEPCs membranes can be potential diagnostic indicator disease.
Glutaric acidemia type 1 is a rare autosomal recessive disease caused by deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric 1. However, there only one report severe acute after minor head trauma patient under guideline-recommended treatment. We second case life-threatening This was previously diagnosed newborn screening, and treatment began at 25 days age. Early diagnosis produce better outcomes for 1, although the...
Abstract Classical MSUD is often fatal without appropriate medical interventions because of metabolic crisis. There are numerous reports suggesting the therapeutic potential deceased donor liver transplantation for . However, usefulness LDLT unknown. We report a case classical , which was successfully managed by from patient's father at 1 year age. Abnormal brain findings, were cured with effective treatment, gradually disappeared after The patient then developed normally. Findings this...
Carnitine is a water-soluble amino acid derivative required for β-oxidation of long-chain fatty acids.In carnitine cycle abnormalities and low states, inhibited during fasting, resulting in hypoglycemia.Pivalic substance used prodrugs to increase absorption parent drugs, antibiotics containing pivalic are frequently as wide spectrum pediatric patients Japan.Pivalic released after conjugated with free form pivaloylcarnitine, which then excreted urine.As consequence, long-term administration...
We examined the association between sex, age, insulin regimens and glycemic control in 133 Japanese children adolescents, 42 males 61 females aged 16.8 ± 7.0 yr, with type 1 diabetes mellitus (T1DM). The patients were divided into 5 age groups also classified according to regimen. annual median HbA1c level (7.3 0.2%) was similar that (7.2 0.2%). In regard of patients, levels 15-19 yr (7.9 0.4%) significantly higher than those 5-9 0.1%) 20≤ (6.6 0.4%, p<0.05, respectively). On other hand,...