Literature DB >> 1153252

The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.

S E Snyderman, C Sansaricq, S V Phansalkar, R C Schacht, P M Norton.   

Abstract

Ornithine transcarbamylase deficiency in the male neonate has been considered to be invariably fatal because of the severity of the hyperammonemia. An extreme degree of hyperammonemia in a male neonate was brought under control by a series of exchange transfusions, prolonged peritoneal dialysis, adequate caloric intake, and a mixture of essential amino acids with an excess of aspartic acid and arginine. After the initial phase, it was possible to maintain the plasma ammonia level with dietary therapy alone, in spite of a number of complications that might be expected to cause tissue damage and increase the hyperammonemia.

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Year:  1975        PMID: 1153252

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  11 in total

1.  Protein load in argininosuccinic aciduria: thoughts on its biochemical implications.

Authors:  H Böhles; D Harms; H Heid; F C Sitzmann; W Fekl
Journal:  Z Ernahrungswiss       Date:  1978-06

2.  A new method for screening for hyperammonemia.

Authors:  K Tada; K Okuda; K Watanabe; Y Iimura; S Yamada
Journal:  Eur J Pediatr       Date:  1979-02-08       Impact factor: 3.183

3.  Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.

Authors:  H Böhles; H Heid; D Harms; D Schmid; W Fekl
Journal:  Eur J Pediatr       Date:  1978-07-19       Impact factor: 3.183

4.  Short-term survival of hyperammonemic neonates treated with dialysis.

Authors:  Stefano Picca; Carlo Dionisi-Vici; Andrea Bartuli; Tommaso De Palo; Francesco Papadia; Giovanni Montini; Marco Materassi; Maria Alice Donati; Enrico Verrina; Maria Cristina Schiaffino; Carmine Pecoraro; Emilia Iaccarino; Enrico Vidal; Alberto Burlina; Francesco Emma
Journal:  Pediatr Nephrol       Date:  2014-09-04       Impact factor: 3.714

5.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet.

Authors:  S D Cederbaum; S J Moedjono; K N Shaw; M Carter; E Naylor; M Walzer
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

7.  Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?

Authors:  Ivana Pela; Daniela Seracini; Maria Alice Donati; Giancarlo Lavoratti; Elisabetta Pasquini; Marco Materassi
Journal:  Pediatr Nephrol       Date:  2007-09-26       Impact factor: 3.714

8.  Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.

Authors:  C van der Heiden; H D Bakker; J Desplanque; M Brink; P K de Bree; S K Wadman
Journal:  Eur J Pediatr       Date:  1978-07-19       Impact factor: 3.183

9.  Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia.

Authors:  W L Nyhan; J Wolff; S Kulovich; A E Shumacher
Journal:  Eur J Pediatr       Date:  1985-01       Impact factor: 3.183

10.  Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

Authors:  D R Webster; H A Simmonds; D M Barry; D M Becroft
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

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