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Methylgenesis from betaine in cystathionine-beta-synthase deficiency. 1993

S P Burns, and R A Iles, and M Ryalls, and J V Leonard
Medical Unit, London Hospital Medical College.

UI MeSH Term Description Entries
D008745 Methylation Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed) Methylations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003542 Cystathionine gamma-Lyase A multifunctional pyridoxal phosphate enzyme. In the final step in the biosynthesis of cysteine it catalyzes the cleavage of cystathionine to yield cysteine, ammonia, and 2-ketobutyrate. EC 4.4.1.1. Cystathionase,Cysteine Desulfhydrase,Cystine Desulfhydrase,Homoserine Deaminase,Homoserine Dehydratase,gamma-Cystathionase,Cystine Desulfohydrolase,Cystathionine gamma Lyase,Deaminase, Homoserine,Dehydratase, Homoserine,Desulfhydrase, Cysteine,Desulfhydrase, Cystine,Desulfohydrolase, Cystine,gamma Cystathionase,gamma-Lyase, Cystathionine
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
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
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
D012521 Sarcosine An amino acid intermediate in the metabolism of choline. Methylglycine,Magnesium Sarcosylate,N-Methylglycine,Sarcosine Hydrochloride,Sarcosine Monosodium Salt,Sodium Sarcosinate,N Methylglycine,Sarcosinate, Sodium,Sarcosylate, Magnesium

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