Lysinuric Protein Intolerance: Pearls to Detect This Otherwise Easily Missed Diagnosis

Overview

Journal Transl Sci Rare Dis

Publisher IOS Press

Date 2020 Nov 2

PMID 33134088

Citations 7

Authors

Firas Alqarajeh

Jacklyn Omorodion

Kerri Bosfield

Natasha Shur

Carlos R Ferreira

Affiliations

Soon will be listed here.

Abstract

Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import and renal proximal tubule loss of the affected amino acids. LPI typically presents with gastrointestinal symptoms, such as vomiting, diarrhea, and failure to thrive.

Case Report: A 4-year-old African-American boy presented with multiple respiratory tract infections, weight loss in the setting of chronic diarrhea and worsening abdominal distention, and multiple episodes of rectal prolapse. Development was unaffected. Laboratory examination demonstrated mild anemia, hypokalemia and hypoalbuminemia, transaminitis, and normal ammonia. Initial urine amino acid analysis did not show major elevations of lysine and ornithine, often lower than expected in the setting of malnutrition. Upon initiation of total parenteral nutrition (TPN), his urine amino acids showed a characteristic profile of dibasic aminoaciduria.

Conclusions: Failure to thrive, chronic diarrhea, and hepatomegaly should raise suspicion for LPI. Urine amino acids can be normal in this condition in the setting of malnutrition, a common complication of the disease. Additionally, it has been previously shown that the plasma arginine and ornithine concentration is higher in LPI subjects.

Citing Articles

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[Enteral nutrition support for lysinuric protein intolerance: a case report and literature review].

Quan J, Liu X, Hu K, Hou Q Zhongguo Dang Dai Er Ke Za Zhi. 2023; 25(12):1270-1275.

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Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.

Lokuhewage C, Pathiraja H, Madawala P, Bandara S, Mettananda S BMC Pediatr. 2023; 23(1):382.

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