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

ABSTRACT:

Background

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.

Case presentation

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

SUBMITTER: King N 

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

REPOSITORIES: biostudies-literature