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Article
Open AccessCurrent status of newborn screening for Pompe disease in Japan
Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and...
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Article
Open AccessFabry disease screening in high-risk populations in Japan: a nationwide study
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, ...
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Article
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment
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...
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Article
Analysis of estrogen receptor β gene methylation in autistic males in a Chinese Han population
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 relations...
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Article
Open AccessClinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
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.C145del mutation in PDHE1α, presente...
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Chapter
Tyrosinemia Type I in Japan: A Report of Five Cases
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). Five cases of patients with tyrosinemi...
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Article
VMAT2 identified as a regulator of late-stage β-cell differentiation
A screen for compounds that promote ES cell differentiation into pancreatic β cells identified a VMAT2- and monoamine-dependent suppression mechanism of pancreatic β-cell differentiation. VMAT2 inhibitors pote...
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Article
Open AccessInteractive network analysis of the plasma amino acids profile in a mouse model of hyperglycemia
Amino acids are a group of metabolites that are important substrates for protein synthesis, are important as signaling molecules and play central roles as highly connected metabolic hubs, and therefore, there ...
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Article
Long-term outcome and intervention of urea cycle disorders in Japan
Urea cycle disorders (UCDs) are one of the most frequently inherited metabolic diseases in Japan, with an estimated prevalence of 1 per 50,000 live births. Here, we investigated the clinical manifestations, tr...
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Protocol
Assessment of Neurogenesis and White Matter Regeneration
Persistent neurogenesis occurs in discrete regions of the brain through neonatal to adult period, including the subgranular zone (SGZ) of the hippocampal dentate gyrus (DG) (J Comp Neurol 124:319–335, 1969) an...
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Article
Heterochronous bilateral adrenal neuroblastoma: stage 4S in early infancy following resection of stage I lesion in the neonatal period
A girl presented with a right adrenal mass, and multiple hepatic lesions and subcutaneous nodules 3 months after complete resection of left adrenal neuroblastoma in the neonatal period. She was treated with si...
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Article
Glycine regulates proliferation and differentiation of salivary-gland-derived progenitor cells
Amino acids have various physiological activities that influence processes such as intestinal regeneration, EGF secretion, protein synthesis, and cell growth. Salivary glands are exposed to nutrients that infl...
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Reference Work Entry In depth
Tyrosinemia Type III and Hawkinsinuria
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Reference Work Entry In depth
Tyrosinemia Type Il
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Reference Work Entry In depth
Tyrosinemia Type I
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Article
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency appears to be the most frequent organic aciduria detected in tandem mass spectrometry (MS/MS) screening programs in the United States, Australia, and ...
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Article
Evaluation of small hypothalamic hamartomas with 3D constructive interference in steady state (CISS) sequence
Hypothalamic hamartomas are relatively rare, non-neoplastic congenital malformations. With conventional MR images alone, small hypothalamic hamartomas may be difficult to diagnose because of artifacts from cer...
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Article
Complete absence of bile and pancreatic ducts in a newborn: a new entity of congenital anomaly in hepato-pancreatic development
We examined a newborn who had no bile and pancreatic ducts. Hydrops was evident after 29 weeks of gestation and she died shortly after birth, weighing 1,368 g. One of her siblings had died of hydrops at about ...
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Article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
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Article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
Propionic acidemia [MIM 606054] is a form of organic acidemia caused by genetic deficiency of propionyl-CoA carboxylase (PCC) and characterized by attacks of severe metabolic acidemia and hyperammonemia begin...
