Neonatal form of the hyperornithinaemia,hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis |
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| Authors: | Vivian E Shih MD Rachel Laframboise Roseann Mandell Jeanne Pichette |
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| Institution: | 1. Le Centre Hospitalier de l'Université Laval, Ste-Foy, Québec, and Service de Médecine Génétique, Département de Pédiatrie et Centre Recherche, CHUL. Québec, Canada;2. Neurology and Children's Services, Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, Massachusetts, U.S.A.;3. Service de Néonatalogie, Département de Pédiatrie, CHUL, Ste-Foy, Québec, Canada |
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| Abstract: | We describe here the first case of neonatal death due to the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and the first prenatal diagnosis of this disorder in a subsequent pregnancy in this family. |
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| Keywords: | Prenatal diagnosis Amino acid disorder Hyperammonaemia Inborn error of metabolism |
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