Publications by authors named "Fumio Endo"

TAK-123, a combination of sodium phenylacetate (NaPA) and sodium benzoate (NaBZ), is an intravenously administered drug developed for the treatment of acute hyperammonemia in infants, children, and adults with urea cycle enzyme deficiencies. The aim of the current study was to evaluate the pharmacokinetics, safety, and tolerability after intravenous infusion of TAK-123 in Japanese healthy adult volunteers. Ten volunteers received a 3.

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Gaucher disease (GD) is an autosomal recessive inborn metabolic disorder caused by a glucocerebrosidase (GCase) defect. GD is classified into three main types depending on accompanying neurological symptoms. Enzyme replacement therapy and substrate reduction therapy are limited in the treatment of neurological symptoms, and using genotype and GCase activity to discriminate between non-neuronopathic and neuronopathic GD may be challenging as the two sometimes phenotypically overlap.

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Article Synopsis
  • Pompe disease is a genetic metabolic disorder caused by a lack of the enzyme acid α-glucosidase, leading to glycogen buildup in muscles, particularly affecting newborns.
  • A study conducted in Japan from 2013 to 2020 screened nearly 300,000 newborns for Pompe disease, identifying one case of infantile-onset Pompe disease (IOPD) and seven potential late-onset cases (LOPD).
  • The findings suggest that the frequency of IOPD in Japan is comparable to that in the U.S., supporting the recommendation for newborn screening for Pompe disease across Japan.
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  • * A recent study from 2018-2021 investigated five patients with ARG1 deficiency, revealing challenges in early diagnosis due to variability in symptoms and onset times among patients.
  • * The study emphasizes the importance of early detection and intervention for better neurodevelopmental outcomes, pointing to liver transplantation as an effective treatment before neurological symptoms manifest.
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Importance: Sapropterin hydrochloride, a natural coenzyme (6R-tetrahydrobiopterin) of phenylalanine hydroxylase, was first approved as a treatment for tetrahydrobiopterin deficiency in 1992 in Japan, and was then approved as a treatment for a tetrahydrobiopterin-responsive hyperphenylalaninemia in 2007 and 2008, in the USA and Japan, respectively. Guidelines are required on the proper use of sapropterin hydrochloride for tetrahydrobiopterin-responsive hyperphenylalaninemia.

Observations: It is recommended that tetrahydrobiopterin-responsive hyperphenylalaninemia should be diagnosed in all cases of hyperphenylalaninemia, including phenylketonuria, by tetrahydrobiopterin administration tests rather than by phenotype or blood phenylalanine levels.

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Background: In Japan, newborn and high-risk screening for Fabry disease (FD), an inherited X-linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and 57 newborns from 54 families with 26 FD-associated variants were detected. In high-risk screening, 18,235 individuals who had symptoms and/or a family history of FD were screened by March 2019, and 236 individuals from 143 families with 101 FD-associated variants were detected.

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Background: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause multisystemic dysfunction. A recent screening study among neonates reported an increase in the incidence of FD, and numerous FD patients remain undiagnosed or even misdiagnosed.

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Introduction: Among patients regularly undergoing hemodialysis, hypocarnitinaemia often develops as a consequence of inadequate dietary intake, reduced synthesis in the body, and considerable losses during hemodialysis.

Objectives: To evaluate the effects of L-carnitine supplementation on patients with end-stage kidney disease (ESKD) who underwent hemodialysis.

Methods: Thirty-one patients with ESKD, comprising 18 men and 13 women, with a median age of 72 (range 58-89) years, who underwent regular hemodialysis received treatment with L-carnitine for 1 year.

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Newborn screening (NBS) for Fabry disease (FD) is the best way to detect FD early prior to presentation of symptoms and is currently implemented in Taiwan and several states such as Illinois, Missouri, and Tennessee in the United States of America. In this report, we provide data from the first large-scale NBS program for FD in Japan. From August 2006 to December 2018, 599,711 newborns were screened; 26 variants, including 15 pathogenic variants and 11 variants of uncertain significance (VOUS; including eight novel variants), were detected in 57 newborns.

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Several metabolic disorders are related to rhabdomyolysis, but their association with methylmalonic acidemia (MMA) and propionic acidemia (PA) is unclear. Eleven patients with MMA and four patients with PA were treated and/or followed up in Kumamoto University Hospital between January 2009 and December 2018. Three patients with MMA and one patient with PA developed rhabdomyolysis at 1-2 weeks after onset of metabolic crisis.

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Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase (Gal) A gene (GLA; MIM:300644). The reduced activity of the lysosomal enzyme, α-galactosidase A (α-Gal A) leads to classic early manifestations and vascular disease of the heart, kidneys, and brain. As a high-risk screening for symptomatic AFD using an enzymatic assay on dried blood spot samples, we enrolled 2325 individuals (803 females and 1522 males; median age: 66 years) with cardiac, renal, or neurological manifestations that met at least one of the following criteria: (a) family history of early-onset cardiovascular diseases; (b) typical classic manifestations, such as acroparesthesias, clustered angiokeratoma, cornea verticillata, and hypo-anhidrosis; (c) proteinuria; (d) receiving dialysis; (e) left ventricular hypertrophy on electrocardiography or echocardiography; or (f) history of stroke.

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The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with hyperammonemia that arise in either the neonatal period (about 50% of cases) or later.

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A newborn screening program for Pompe disease using dried blood spots (DBSs) was initiated in Japan. Here, we summarized this screening program and described the results of the GAA gene analysis. From April 2013 to November 2016, 103,204 newborns were screened; 71 had low acid alpha-glucosidase (AαGlu) activity.

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Article Synopsis
  • A study was conducted to investigate the prevalence of coronary spastic angina (CSA) in patients with Anderson-Fabry disease (AFD), as this connection was previously reported but not quantified.
  • The researchers conducted acetylcholine-induced provocation tests on 9 patients from 5 different AFD families, finding that 8 out of 9 patients (89%) experienced coronary spasms along with related symptoms and ECG changes.
  • The results indicate a significantly high prevalence of CSA among AFD patients, highlighting a potential link that needs further exploration.
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Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Neurodevelopmental outcomes of patients with UCDs depend on the maximum ammonia concentration (MAC) in the blood during onset. MAC ≥360 μM is a marker of poor neurodevelopmental outcomes.

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The metabolic properties of cells are formed under the influence of environmental factors such as nutrients and hormones. Although such a metabolic program is likely initiated through epigenetic mechanisms, the direct links between metabolic cues and activities of chromatin modifiers remain largely unknown. In this study, we show that lysine-specific demethylase-1 (LSD1) controls the metabolic program in myogenic differentiation, under the action of catabolic hormone, glucocorticoids.

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Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase enzyme activity. Clinical phenotypes of GD are categorized into three groups: (i) non-neuronopathic GD (type 1), (ii) acute neuronopathic GD (type 2) and (iii) subacute neuronopathic GD (type 3). The high-risk screening of neuronopathic GD has been performed using an enzymatic assay on the dried blood spot (DBS) samples.

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Background: There are no reports in the literature of blood samples obtained from the same individual being subjected to analysis at the same time using the enzymatic cycling (EC) method along with electrospray tandem mass spectrometry (ESI/MS/MS) before and after carnitine treatment.

Methods: Blood samples from 29 patients (median age: 73 years old, age range: 41 - 89 years) receiving regular hemodialysis for chronic renal failure before and after carnitine treatment for 3 months were measured by the EC method, and using a dried blood spot (DBS) and ESI/MS/MS.

Results: Before the carnitine treatment, the rate of increase or decrease in the free and acyl-carnitine levels of the DBS using the ESI/MS/MS method to those measured by the EC methods was a median of -28.

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Tyrosinemia type I in Japan was reported for the first time in 1957 by Sakai et al. (Jikei Med J 2:1-10, 1957) and Kitagawa et al. (Proc Jpn Acad Ser B 88:192-200, 1957).

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UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT.

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Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.

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Autism spectrum disorder (ASD) is a neurodevelopment disorder with abnormalities of social interaction, communication and repetitive behaviors. The higher prevalence of ASD in men implies a potential relationship between sex hormones and ASD etiology. The ESR2 gene encodes estrogen receptor beta (ESR2) and plays an important role during brain development.

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Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as genetic (private mutations and lyonization) and external factors; however, the outcomes of these conditions may differ. We resuscitated a female patient with OTCD from hyperammonemic crisis after she gave birth.

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Fabry disease is an important underlying disease in young cryptogenic stroke patients. However, little is known regarding the frequency of Fabry disease in the general stroke population, especially in elderly patients. A total of 588 stroke patients (61.

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Background: Improvements in neonatal medicine and pediatric emergency medicine have led to an increasing number of children with severe disabilities requiring medical care, such as tracheal suction, on a daily basis. Most of these children, discharged directly from hospitals to their parents' homes, need home medical support. To provide data for the establishment of appropriate support systems, we analyzed the care for such children in a time study conducted at an institution.

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