Homocystinuria due to Cystathionine Synthetase Deficiency: The Mode of Inheritance
- 6 November 1964
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 146 (3645), 785-787
- https://doi.org/10.1126/science.146.3645.785
Abstract
Deficiency of cystathioninie synthetase activity results in the clinical syndrome of homocystinuria. In both parents of a patient with homocystinuria, the hepatic cystathionine synthetase activity was 40 percent of that in unrelated control patients. These findings demonstrate that the metabolic error is inherited and suggest that the parents, although clinically normal, represent the heterozygous. state. A second case of homocystinuria also is shown to be associated with cystathionine synthetase deficiency.Keywords
This publication has 9 references indexed in Scilit:
- Homocystinuria: Absence of Cystathionine in the BrainScience, 1964
- Homocystinuria: Absence of Cystathionine in the BrainScience, 1964
- Studies on the Induction and Repression of Enzymes in Rat LiverPublished by Elsevier ,1964
- Control Mechanism in the Rat Liver Enzyme System Converting L-Methionine to L-CystlfleThe Journal of Biochemistry, 1964
- Homocystinuria: An Enzymatic DefectScience, 1964
- HOMOCYSTINURIA, AN ERROR IN THE METABOLISM OF METHIONINEPediatrics, 1964
- STUDIES ON INDUCTION + REPRESSION OF ENZYMES IN RAT LIVER .I. INDUCTION OF THREONINE DEHYDRASE + ORNITHINE-DELTA-TRANSAMINASE BY ORAL INTUBATION OF CASEIN HYDROLYSATE1964
- Homocystinuria: A new inborn error of Metabolism associated with Mental DeficiencyArchives of Disease in Childhood, 1963
- The identification of homocystine in the urineBiochemical and Biophysical Research Communications, 1962