Mika Ishige   Tetsuya Ito   Takashi Hamazaki   Mitsuhiro Kuwahara   Lawrence Lee   Haruo Shintaku   
Molecular genetics and metabolism 140(3) 107697-107697 2023年11月
Phenylketonuria (PKU) is an inborn error of metabolism caused by deficiency of phenylalanine hydroxylase, resulting in high blood phenylalanine (Phe) concentrations with potential for impaired neurocognition. Pegvaliase, a pegylated recombinant ph...
Journal of inherited metabolic disease 46(4) 618-633 2023年7月
BACKGROUND: Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose-6-phosphatase gene (G6PC) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. Although its symptoms are rep...
Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neur...
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched-chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched-chain α-ketoacid deh...
The Tohoku journal of experimental medicine 258(3) 183-193 2022年10月
Thrombotic microangiopathy (TMA) is a disease that causes organ damage due to microvascular hemolytic anemia, thrombocytopenia, and microvascular platelet thrombosis. Streptococcus pneumoniae-associated TMA (spTMA) is a rare complication of invasi...
【背景】Congenital anomalies of kidney and urinary tract(CAKUT)は腎不全に至る先天異常である。近年CAKUTに対して早期介入することで腎不全までの時期を延ばした報告が散見されており、CAKUT患者の早期発見は重要視されている。本邦ではCAKUT早期発見のために3歳児検尿を行っているが、実際にはCAKUT児の10%しか発見できていない。我々は新生児タンデムマススクリーニングの手法で、腎機能評価の指標として用いられているクレアチニン(Cr)...