title: 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.
authors.affiliation: Wuqu' Kawoq | Maya Health Alliance, 2a Calle 5-43 Zona 1, Santiago Sacatepéquez, Guatemala. nora@wuqukawoq.org.
authors.forename: Nora
authors.initials: N
authors.lastname: King
authors.affiliation: Wuqu' Kawoq | Maya Health Alliance, 2a Calle 5-43 Zona 1, Santiago Sacatepéquez, Guatemala.|Facultad de Medicina, Universidad Francisco Marroquín, 6a Avenida 7-55 zona 10, Guatemala City, 01010, Guatemala.
authors.forename: Romina
authors.initials: R
authors.lastname: Alvizures
authors.affiliation: Wuqu' Kawoq | Maya Health Alliance, 2a Calle 5-43 Zona 1, Santiago Sacatepéquez, Guatemala.
authors.forename: Pablo
authors.initials: P
authors.lastname: García
authors.affiliation: Metabolism Program, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.
authors.forename: Ann
authors.initials: A
authors.lastname: Wessel
authors.affiliation: Wuqu' Kawoq | Maya Health Alliance, 2a Calle 5-43 Zona 1, Santiago Sacatepéquez, Guatemala.
authors.forename: Peter
authors.initials: P
authors.lastname: Rohloff
mesh_terms: D002675:Child, Preschool; D002908:Chronic Disease; D057210:Delayed Diagnosis; D003906:Developing Countries; D005260:Female; D006130:Growth Disorders / Q000209:etiology*; D006166:Guatemala; D006801:Humans; D020162:Hyperargininemia / Q000150:complications / Q000175:diagnosis*
keywords: Argininemia; Child development; Inborn errors of metabolism; Resource-poor medicine; Stunting