A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet
- 1 June 1986
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 9 (2) , 186-192
- https://doi.org/10.1007/bf01799457
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.This publication has 8 references indexed in Scilit:
- Ultrastructural changes in fibroblast mitochondria of a patient with HHH‐syndromeJournal of Inherited Metabolic Disease, 1984
- Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemiaJournal of Inherited Metabolic Disease, 1980
- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I ActivityPediatric Research, 1975
- Ornithinemia, Hyperammonemia, and HomocitrullinuriaAmerican Journal of Diseases of Children, 1974
- Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.1969
- Hyperornithinemia, Hyperammonemia, and HomocitrullinuriaAmerican Journal of Diseases of Children, 1969