The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance

Soumalya Chakraborty; Ravneet Kaur; Bijoy Patra; J P Meena; S K Kabra; Madhulika Kabra; Neerja Gupta

doi:10.1007/s12098-024-05124-y

The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance

Indian J Pediatr. 2024 May 4. doi: 10.1007/s12098-024-05124-y. Online ahead of print.

Authors

Soumalya Chakraborty¹, Ravneet Kaur², Bijoy Patra², J P Meena³, S K Kabra⁴, Madhulika Kabra¹, Neerja Gupta⁵

Affiliations

¹ Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
² Pediatric Intensive Care, Department of Pediatrics, ABVIMS & Dr. RML Hospital, New Delhi, 110001, India.
³ Division of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
⁴ Division of Pulmonology and Pediatric Critical Care, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
⁵ Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. neerja17@gmail.com.

PMID: 38703326
DOI: 10.1007/s12098-024-05124-y

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.

Keywords: Hemophagocytolymphohistiocytosis; Hyperammonemia; Lysinuric protein intolerance; Pulmonary alveolar proteinosis.