Arginase deficiency

descriptionPublicationkeyboard_double_arrow_right Article , Other literature type 01 Mar 1997 English Publisher:Springer Science and Business Media LLCJournal:The Indian Journal of Pediatrics, volume 64, pages 266-269 (issn: 0019-5456, eissn: 0973-7693,

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Authors: R, Christopher; V, Rajivnath; K T, Shetty;

doi: 10.1007/bf02752462

pmid: 10771848

Arginase deficiency

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Abstract

Hyperargininemia due to arginase deficiency is a rare, inherited, urea cycle disorder. We report a case of arginase deficiency in a 5-year old boy presenting with mild hyperammonemia, hyperargininemia, and dibasic aminoaciduria.

Related Organizations

National Institute of Mental Health and Neurosciences
India

Keywords

Chromosome Aberrations, Male, Hyperargininemia, Child, Preschool, Humans, Chromosome Disorders, Genes, Recessive

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