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.
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container_end_page 52
container_issue 1
container_start_page 48
container_title Neuropediatrics
container_volume 17
creator Hommes, F. A.
Roesel, R. A.
Metoki, K.
Hartlage, P. L.
Dyken, P. R.
description 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 cerebrospinal fluid. The blood ammonia concentration could be lowered by supplementation of the diet with low doses of arginine. High doses of arginine precipitated seizures, although plasma levels of arginine and ornithine were not altered. The uptake of ornithine by the particulate fraction of the patient's fibroblasts was lower than that of controls, but still measurable. It is suggested that HHH patients have a partial impairment of the uptake of ornithine by mitochondria.
doi_str_mv 10.1055/s-2008-1052499
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source MEDLINE; Thieme Connect Journals
subjects 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
title Studies on a Case of HHH-Syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria)
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