Literature DB >> 174426

Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.

N R Glick, P J Snodgrass, I A Schafer.   

Abstract

An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in frozen stored tissues accounts for previous reports of deficient AL activity in the brain and kidney of neonates with this disease. The variation of AL activity in the tissues of this patient demonstrates that more than one gene locus either codes for the structure of this enzyme or regulates its biosynthesis in different organs.

Entities:  

Mesh：

Substances：

Year:  1976        PMID： 174426      PMCID： PMC1684908     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  17 in total

1.  ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.

Authors:  S TOMLINSON; R G WESTALL
Journal:  Clin Sci       Date:  1964-04       Impact factor: 6.124

2.  Adaptive characteristics of urea cycle enzymes in the rat.

Authors:  R T SCHIMKE
Journal:  J Biol Chem       Date:  1962-02       Impact factor: 5.157

3.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

Review 4.  Enzymes of arginine and urea synthesis.

Authors:  S Ratner
Journal:  Adv Enzymol Relat Areas Mol Biol       Date:  1973

5.  Deficient argininosuccinase activity in brain in argininosuccinicaciduria.

Authors:  J Kint; D Carton
Journal:  Lancet       Date:  1968-09-14       Impact factor: 79.321

6.  Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria.

Authors:  R J Pollitt
Journal:  Clin Chim Acta       Date:  1973-06-14       Impact factor: 3.786

7.  Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

Authors:  E M Short; H O Conn; P J Snodgrass; A G Campbell; L E Rosenberg
Journal:  N Engl J Med       Date:  1973-01-04       Impact factor: 91.245

8.  Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.

Authors:  A G Campbell; L E Rosenberg; P J Snodgrass; C T Nuzum
Journal:  N Engl J Med       Date:  1973-01-04       Impact factor: 91.245

9.  Antenatal diagnosis of argininosuccinic aciduria.

Authors:  S I Goodman; J W Mace; B Turner; W J Garrett
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

10.  Urea cycle enzyme adaptation to dietary protein in primates.

Authors:  C T Nuzum; P J Snodgrass
Journal:  Science       Date:  1971-06-04       Impact factor: 47.728
View more
  6 in total

1.  Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Authors:  W J Kleijer; V H Garritsen; M Linnebank; P Mooyer; J G M Huijmans; A Mustonen; K O J Simola; M Arslan-Kirchner; R Battini; P Briones; E Cardo; H Mandel; E Tschiedel; R J A Wanders; H G Koch
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

2.  Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

Authors:  Katharina Engel; Jean-Marc Vuissoz; Sandra Eggimann; Murielle Groux; Christoph Berning; Liyan Hu; Vera Klaus; Dorothea Moeslinger; Saadet Mercimek-Mahmutoglu; Sylvia Stöckler; Bendicht Wermuth; Johannes Häberle; Jean-Marc Nuoffer
Journal:  J Inherit Metab Dis       Date:  2011-06-11       Impact factor: 4.982

3.  Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

Authors:  S L Naylor; R J Klebe; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1978-12       Impact factor: 11.205

4.  Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.

Authors:  R R McInnes; V Shih; S Chilton
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

5.  Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

Authors:  Liyan Hu; Amit V Pandey; Sandra Eggimann; Véronique Rüfenacht; Dorothea Möslinger; Jean-Marc Nuoffer; Johannes Häberle
Journal:  J Biol Chem       Date:  2013-10-17       Impact factor: 5.157

6.  Effects of sex and estrous cycle on the brain and plasma arginine metabolic profile in rats.

Authors:  Jiaxian Zhang; Yu Jing; Hu Zhang; Ping Liu
Journal:  Amino Acids       Date:  2021-07-10       Impact factor: 3.520
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.