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04-05-2024 | Hemophagocytic Lymphohistiocytosis | Clinical Brief

The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance

Authors: Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, JP Meena, SK Kabra, Madhulika Kabra, Neerja Gupta

Published in: Indian Journal of Pediatrics

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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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Metadata
Title
The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance
Authors
Soumalya Chakraborty
Ravneet Kaur
Bijoy Patra
JP Meena
SK Kabra
Madhulika Kabra
Neerja Gupta
Publication date
04-05-2024
Publisher
Springer India
Published in
Indian Journal of Pediatrics
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-024-05124-y