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Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency. 2008

Kyoko Yokoi, and Tetsuya Ito, and Yumiko Ohkubo, and Satoshi Sumi, and Akihito Ueta, and Naruji Sugiyama, and Hajime Togari
Department of Pediatrics, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japan. kyoyo@med.nagoya-cu.ac.jp

UI MeSH Term Description Entries
D008715 Methionine A sulfur-containing essential L-amino acid that is important in many body functions. L-Methionine,Liquimeth,Methionine, L-Isomer,Pedameth,L-Isomer Methionine,Methionine, L Isomer
D003541 Cystathionine beta-Synthase A multifunctional pyridoxal phosphate enzyme. In the second stage of cysteine biosynthesis it catalyzes the reaction of homocysteine with serine to form cystathionine with the elimination of water. Deficiency of this enzyme leads to HYPERHOMOCYSTEINEMIA and HOMOCYSTINURIA. EC 4.2.1.22. Serine Sulfhydrase,beta-Thionase,Cystathionine Synthetase,Cystathionine beta Synthase,Sulfhydrase, Serine,Synthetase, Cystathionine,beta Thionase,beta-Synthase, Cystathionine
D005260 Female Females
D005765 Gastrointestinal Agents Drugs used for their effects on the gastrointestinal system, as to control gastric acidity, regulate gastrointestinal motility and water flow, and improve digestion. Digestants,Gastric Agents,Gastric Drugs,Gastrointestinal Drugs,Agents, Gastric,Agents, Gastrointestinal,Drugs, Gastric,Drugs, Gastrointestinal
D006710 Homocysteine A thiol-containing amino acid formed by a demethylation of METHIONINE. 2-amino-4-mercaptobutyric acid,Homocysteine, L-Isomer,2 amino 4 mercaptobutyric acid,Homocysteine, L Isomer,L-Isomer Homocysteine
D006712 Homocystinuria Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) CBS Deficiency,Cystathionine beta-Synthase Deficiency Disease,Cystathionine Beta Synthase Deficiency,Deficiency Disease, Cystathionine beta-Synthase,CBS Deficiencies,Cystathionine beta Synthase Deficiency Disease,Deficiencies, CBS,Deficiency Disease, Cystathionine beta Synthase,Deficiency, CBS
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D001622 Betaine A naturally occurring compound that has been of interest for its role in osmoregulation. As a drug, betaine hydrochloride has been used as a source of hydrochloric acid in the treatment of hypochlorhydria. Betaine has also been used in the treatment of liver disorders, for hyperkalemia, for homocystinuria, and for gastrointestinal disturbances. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1341) Lycine,Oxyneurine,Acidin-Pepsin,Betaine Hydrochloride,C.B.B.,Citrate de Bétaïne Beaufour,Citrate de Bétaïne UPSA,Cystadane,Glycine Betaine,Hepastyl,Novobetaine,Scorbo-bétaïne,Stea-16,Acidin Pepsin,AcidinPepsin,Betaine, Glycine,Hydrochloride, Betaine,Scorbo bétaïne,Scorbobétaïne,Stea 16,Stea16
D035781 Siblings Persons or animals having at least one parent in common. (American College Dictionary, 3d ed) Brothers,Sisters,Brother,Sibling,Sister

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