Literature DB >> 14197572

HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.

J D FINKELSTEIN, S H MUDD, F IRREVERRE, L LASTER.   

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.

Entities:  

Keywords:  AMINO ACID METABOLISM, INBORN ERRORS; AMINOACIDURIA, RENAL; DEFICIENCY DISEASES; GENETICS, HUMAN; HYDRO-LYASES; LIVER DISEASES; LIVER ENZYMOLOGY; PATHOLOGY

Mesh：

Substances：

Year:  1964        PMID： 14197572     DOI： 10.1126/science.146.3645.785

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  17 in total

1.  Tissue culture techniques as an aid to prenatal diagnosis and genetic counselling in homocystinuria.

Authors:  A H Bittles; N A Carson
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

2.  Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading.

Authors:  I B Sardharwalla; B Fowler; A J Robins; G M Komrower
Journal:  Arch Dis Child       Date:  1974-07       Impact factor: 3.791

3.  Homocystinuria.

Authors:  D C Cusworth; C E Dent
Journal:  Biochem J       Date:  1969-02       Impact factor: 3.857

4.  Deficiencies of cystathionase and homoserine dehydratase activities in cystathioninuria.

Authors:  J D Finkelstein; S H Mudd; F Irreverre; L Laster
Journal:  Proc Natl Acad Sci U S A       Date:  1966-04       Impact factor: 11.205

5.  The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

Authors:  L A Kluijtmans; G H Boers; J P Kraus; L P van den Heuvel; J R Cruysberg; F J Trijbels; H J Blom
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

6.  Dietary treatment of homocystinuria.

Authors:  G M Komrower; A M Lambert; D C Cusworth; R G Westall
Journal:  Arch Dis Child       Date:  1966-12       Impact factor: 3.791

7.  Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

Authors:  G H Boers; B Fowler; A G Smals; F J Trijbels; A I Leermakers; W J Kleijer; P W Kloppenborg
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  Homocystinuria: heterozygote detection using phytohemagglutinin-stimulated lymphocytes.

Authors:  J L Goldstein; B K Campbell; S M Gartler
Journal:  J Clin Invest       Date:  1973-01       Impact factor: 14.808

9.  Homocystinuria in New South Wales.

Authors:  B Wilcken; G Turner
Journal:  Arch Dis Child       Date:  1978-03       Impact factor: 3.791

Review 10.  Classical homocystinuria: vascular risk and its prevention.

Authors:  S Yap
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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