Title |
Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report
|
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Published in |
BMC Pediatrics, August 2016
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DOI | 10.1186/s12887-016-0668-9 |
Pubmed ID | |
Authors |
Nora King, Romina Alvizures, Pablo García, Ann Wessel, Peter Rohloff |
Abstract |
Argininemia is rare inborn error of metabolism which, when untreated, presents in late infancy with growth delay and developmental regression. In developed countries, argininemia is diagnosed early by newborn screening and is treated immediately with a protein-restricted diet. In developing countries, diagnosis may be delayed by the assumption that stunting is related to malnutrition alone. We describe the diagnosis and treatment of argininemia in a 60-month-old Kaqchikel Maya girl in rural Guatemala. The patient initially presented with severe stunting and developmental regression. The initial diagnosis of argininemia was made by a screening test in dried blood spots and confirmed with urine and serum amino acid profiles. The patient was treated with a low-protein diet using locally available foods, leading to significant improvement in her growth and development. This case demonstrates that the identification, diagnosis and treatment of IEM in developing countries are increasingly feasible, as well as ethically imperative. Providers working with malnourished children in developing countries should suspect IEM in malnourished children who do not respond to standard therapies. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 46 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 6 | 13% |
Other | 5 | 11% |
Student > Bachelor | 5 | 11% |
Researcher | 4 | 9% |
Lecturer | 3 | 7% |
Other | 8 | 17% |
Unknown | 15 | 33% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 9 | 20% |
Nursing and Health Professions | 6 | 13% |
Biochemistry, Genetics and Molecular Biology | 4 | 9% |
Agricultural and Biological Sciences | 3 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 4% |
Other | 6 | 13% |
Unknown | 16 | 35% |