Studies on a Case of HHH-Syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria)

Abstract A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described. This patient represents the 12th documented case of this rare, presumably autosomal recessive condition. Increased levels of ammonia, ornithine and homocitrulline were demonstrated in blood and ce...

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Veröffentlicht in:	Neuropediatrics 1986-02, Vol.17 (1), p.48-52
Hauptverfasser:	Hommes, F. A., Roesel, R. A., Metoki, K., Hartlage, P. L., Dyken, P. R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - metabolism Amino Acids - metabolism Aminoacid disorders Ammonia - metabolism Biological and medical sciences Biological Transport CASE REPORTS Child, Preschool Citrulline - analogs & derivatives Citrulline - urine Errors of metabolism Fibroblasts - metabolism Follow-Up Studies Humans Kinetics Male Medical sciences Metabolic diseases Ornithine - metabolism Psychomotor Disorders - metabolism Seizures - metabolism Syndrome
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