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Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report.

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.

SUBMITTER: King N

PROVIDER: S-EPMC4994184 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature

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Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report.

King Nora N Alvizures Romina R García Pablo P Wessel Ann A Rohloff Peter P

BMC pediatrics 20160822 1

<h4>Background</h4>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.<h4>Case presentation</h4>We describe the diagnosis and treatment of argininemia in a 60 ...[more]

PMID: 27549856

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Project description:BackgroundAgeing in Place is the emerging social policy drive for long-term care coordination of older persons globally. This decision may be the only viable option in many low- and middle-income countries like Nigeria. Nevertheless, the risk of older persons being 'stuck in place' is high if their preferences are not considered or other alternatives are neither acceptable nor available. This study determined factors associated with the preferred care setting among community-dwelling older persons and explored their views about their choices.MethodsThe study utilised a mixed-methods approach. Participants were older persons (≥ 60 years) in a selected rural and urban community in Oyo State, south-western Nigeria. Quantitative data were collected using an interviewer-administered, semi-structured questionnaire and analysed using Stata version 14 at p<0.05. Qualitative data collection involved 22 Focus Group Discussions (FGD). The discussions were audiotaped, transcribed verbatim and analysed thematically using ATLAS.ti version 8. Selected quotations were used to illustrate themes.Results1,180 participants (588 rural vs 592 urban) were interviewed with a mean age of 73.2 ±9.3 years. More rural participants preferred to AIP (61.6%) compared to urban participants (39.2%), p = 0.001. Factors associated with the decision for rural participants were older age [OR:2.07 (95%CI:1.37-3.14)], being male [OR:2.41(95%CI:1.53-3.81)] and having assistance at home [OR:1.79 (95%CI:1.15-2.79)]. In comparison, significant factors for urban participants were older age (≥70years) [OR:1.54(95%CI:1.03-2.31)] and home-ownership [OR:5.83 (95%CI:3.82-8.91)]. The FGD revealed that the traditional expectation of reciprocity of care mostly influenced the desire to AIP. Advantages include improved social connectedness, quality of care, community participation and reduced isolation. Interestingly, participants were not opposed to the option of institutional care.ConclusionAgeing in place is preferred and influenced by advanced age and home ownership in our setting. Information provided could guide age-friendly housing policies and community-based programmes for the care of older persons.

Dataset Information

Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report.

Publications

Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report.

Similar Datasets

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