Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine

@article{Simoni2004HyperargininaemiaAL,
  title={Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine},
  author={Ruth E. Simoni and C. P. Hon{\'o}rio de Oliveira and Marcela Jaqueline Braga and C. R. Gayer de Menezes and Juan Llerena Jr and Patr{\'i}cia Santana Correia and A. A. Santa Rosa and Dafne Dain Gandelman Horovitz and C.R.M. Chaves and Maria L{\'u}cia Costa de Oliveira},
  journal={Journal of Inherited Metabolic Disease},
  year={2004},
  volume={20},
  pages={715-716}
}
Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine R. E. Simoni1, C. P. Honório de Oliveira1, M. J. Braga1, C. R. Gayer de Menezes1, J. C. Llerena Jr2, P. S. Correia2, A. A. Santa Rosa2, D. G. Horovitz2, C. R. M. Chaves2, M. L. Corta de Oliveira1* 1Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro, Cidade Universitária, Rio de Janerio, 2Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro… Expand
3 Citations
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
TLDR
The panel of heterogeneous ARG1 mutations that cause HA was expanded, nevertheless a clear genotype-phenotype correlation was not observed, and bioinformatics analyses revealed that missense mutations affect the ARG 1 active site, interfere with the stability of the ARg1 folded conformation or alter the quaternary structure of theARG1. Expand
Clinical features and neurologic progression of hyperargininemia.
TLDR
Progressive spastic diplegia constituted the key clinical abnormality in this group of patients, but variability in clinical presentation and progression were evident in this series. Expand
Why are homocysteine levels increased in kidney failure? A metabolic approach.
Abbreviations: AdoHcy S-adenosylhomocysteine; AdoMet S-adenosylmethionine; ATP adenosine triphosphate; bHcy protein-bound Hcy; BHMT betaine-homocysteine methyltransferase; CBS cystathionineExpand

References

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Biochemical diagnosis and follow-up in a new Italian patient with hyperargininaemia
TLDR
The findings in a further patient with hyperargininaemia are described, the clinical and biochemical evolution during treatment are discussed and the boy presently is incapable of walking without support is observed. Expand
Hyperargininaemia: follow-up of a new case
TLDR
The hyperargininaemia was treated with protein reduction in the diet and the administration of an arginine-free essential amino acid mixture, which was disagreeable, and the impression was of severe delay in all areas. Expand