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The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance

Overview
Journal Indian J Pediatr
Specialty Pediatrics
Date 2024 May 4
PMID 38703326
Authors
Soumalya Chakraborty
Ravneet Kaur
Bijoy Patra
J P Meena
S K Kabra
Madhulika Kabra
Neerja Gupta
Affiliations
Soon will be listed here.
Abstract

Lysinuric protein intolerance (LPI) is an inborn metabolic error caused by cationic amino acid transport defects. The disease has a significant degree of phenotypic variation, with no confirmed genotype-phenotype correlation. Because it presents with symptoms similar to far more common diseases, the diagnosis is often missed, resulting in increased morbidity and mortality. This case series describes three examples of LPI with pulmonary, neurological, and immunological manifestations, emphasising the importance of keeping this disorder on the differential list. Appropriate metabolic and genetic testing is important in providing the correct diagnosis and timely care in such cases.

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