Literature DB >> 3091924

A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.

L R Gjessing, H A Lunde, T Undrum, H Broch, A Alme, S O Lie.   

Abstract

The characteristic biochemical disturbances of the amino acid and pyrimidine metabolism are described and illustrated by the first case of the HHH syndrome reported in Norway. The disorder was treated with a low protein diet at an early age and the patient developed normally on this diet.

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Year:  1986        PMID： 3091924     DOI： 10.1007/bf01799457

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

1.  Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.

Authors:  P D Gatfield; E Taller; D M Wolfe; M D Haust
Journal:  Pediatr Res       Date:  1975-05       Impact factor: 3.756

2.  Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.

Authors:  V Fell; R J Pollitt; G A Sampson; T Wright
Journal:  Am J Dis Child       Date:  1974-05

3.  Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria.

Authors:  R G Gray; S E Hill; R J Pollitt
Journal:  Clin Chim Acta       Date:  1982-02-05       Impact factor: 3.786

4.  Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.

Authors:  F A Hommes; C K Ho; R A Roesel; M E Coryell; B A Gordon
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

5.  Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.

Authors:  V E Shih; R Mandell; A Herzfeld
Journal:  Clin Chim Acta       Date:  1982-02-05       Impact factor: 3.786

6.  Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.

Authors:  V E Shih; M L Efron; H W Moser
Journal:  Am J Dis Child       Date:  1969-01

7.  Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.

Authors:  K Metoki; F A Hommes; P Dyken; C Kelloes; J Trefz
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982
  7 in total
  2 in total

1.  HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

Authors:  S Fecarotta; G Parenti; P Vajro; A Zuppaldi; R Della Casa; M T Carbone; A Correra; G Torre; S Riva; C Dionisi-Vici; F M Santorelli; G Andria
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

Review 2.  The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Authors:  Diego Martinelli; Daria Diodato; Emanuela Ponzi; Magnus Monné; Sara Boenzi; Enrico Bertini; Giuseppe Fiermonte; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2015-03-11       Impact factor: 4.123
  2 in total

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