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[Hyperargininemia. Clinical aspects and molecular basis of the defect].
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Guanidino Compounds in Hyperargininemia
The patients studied are three sisters affected with hyperargininemia. The clinical and biochemical picture has been reported in full1–3. Like all patients affected with urea cycle diseases, the first clinical symptoms seen in a patient with hyperargininemia are irritability, coma and epilepsy.
H G Terheggen, B Marescau, A Lowenthal
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Guanidino Compounds That Are Increased in Hyperargininemia Inhibit GABA and Glycine Responses on Mouse Neurons in Cell Culture [PDF]
The effects of arginine, homoarginine, [alpha]-keto-[delta]-guanidinovaleric acid and argininic acid (guanidino compounds that were found to be increased in hyperargininemia) were evaluated on responses to [gamma]-aminoburtyric acid (GABA) and glycine ...
Peter Paul De Deyn +2 more
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Guanidino Compounds in Hyperargininemia
Plasma and cerebrospinal fluid (CSF) concentrations and urinary excretion of guanidino compounds were investigated in a patient with hyperargininemia during the treatment with low-protein diet, oral administration of an essential amino acid mixture and sodium benzoate, or enzyme replacement therapy such as exchange transfusion or erythrocyte ...
Kazuyoshi Watanabe +2 more
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Enzyme Replacement Therapy in a Patient With Hyperargininemia
In a patient with hyperargininemia, enzyme replacement therapy such as whole blood exchange transfusion or erythrocyte transfusion was performed, and its effect was confirmed in vitro as well as in vivo. The patient has been treated with the restriction of protein intake, oral administration of an essential amino acid mixture, and sodium benzoate or ...
Kazuyoshi Watanabe +2 more
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Hyperargininemia: Clinical Course and Treatment With Sodium Benzoate and Phenylacetic Acid
Brain and Development, 1983In a patient with hyperargininemia, oral administration of sodium benzoate or phenylacetic acid together with an essential amino acid mixture was used to prevent hyperammonemia and to decrease plasma and CSF concentrations of arginine. Sodium benzoate reduced the plasma ammonia levels, which was confirmed by the increase of urinary excretion of ...
Kazuyoshi Watanabe +2 more
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Clinical Features and Neurologic Progression of Hyperargininemia
Pediatric Neurology, 2012Hyperargininemia is an autosomal recessive metabolic disorder caused by a deficiency of enzyme arginase I. It is a rare pan-ethnic disease with a clinical presentation distinct from that of other urea cycle disorders, and hyperammonemic encephalopathy is not usually observed.
Daniel R Carvalho
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