Article

Lysinuric protein intolerance presenting with recurrent infections, severe liver injury and anemia in the neonatal period: A case report with organic acidemia-like manifestations

2026-03-24

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Lysine uric protein intolerance (LPI) is a rare autosomal recessive genetic metabolic disorder caused by variations in the SLC7A7 gene. The typical manifestations are protein intolerance, growth retardation and hyperammonemia. <bold>Case Report</bold> A 2-month-old male infant presented with recurrent respiratory tract infections. Upon admission, anemia and...

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Literature Corpus work: a2ae6a45-79d0-56d0-a176-e027926db2f3
DOI: 10.21203/rs.3.rs-8996712/v1

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