Pediatrics & Neonatal Biology Open Access (PNBOA)
ISSN: 2640-2726
Case Report
Lysinuric Protein Intolerance: A Treatable Cause of Developmental Delay with Multiple Complications
Abstract
Background: Lysinuric protein intolerance (LPI) is a multi systemic disease with a variety of clinical symptoms. Early and aggressive treatment can significantly reduce the number of hyperammonaemic episodes and prevent mental disability.
Case series: We report a case series from two siblings with LPI: The eldest boy presented at three and a half years of age with short stature, global developmental delay & a history of recurrent infections. His younger brother was identified in the newborn period with lethargy and weight loss. Basic metabolic screening showed hyperammonaemia, gross urinary excretion of lysine & to a lesser degree increased excretion of arginine, ornithine and orotic acid. Plasma amino acids showed either low or low normal lysine, arginine and ornithine.
Results: Both cases were treated with protein restriction, nitrogen scavengers, citrulline and L-carnitine. They were provided with an appropriate oral and intravenous emergency regimen for use when unwell. At the last follow-up the eldest boy showed a marked improvement in his development, whilst the youngest infant has normal physical & mental development for age.
Conclusions: Marked improvement in LPI patients can be achieved by strict diet and medication with early identification & treatment likely to lead to the best possible intellectual outcomes.
Keywords: Lysinuric Protein Intolerance; Ornithine; Arginine; Glutamine; Hyperammonaemia
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