Original Article
Volume: 3 | Issue: 1 | Published: Apr 30, 2020 | Pages: 7 - 13 | DOI: 10.24911/JBCGenetics/183-1580808879
Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain
Authors: Emtithal Aljishi , Zahra Alsahlawi , Mohammed Taha , Abdulla Alshaiji , Zakiya Almosawi , Osama Abelkarim , Hasan Isa , Khulood Alsaad , Ali Ebrahim
Article Info
Authors
Emtithal Aljishi
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
Zahra Alsahlawi
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
Mohammed Taha
Arabian Gulf University, Manama, Kingdom of Bahrain
Abdulla Alshaiji
Arabian Gulf University, Manama, Kingdom of Bahrain
Zakiya Almosawi
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
Osama Abelkarim
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
Hasan Isa
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
Khulood Alsaad
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
Ali Ebrahim
Alhekmha Pediatric Consultation Clinic, Manama, Kingdom of Bahrain
Publication History
Received: February 04, 2020
Revised: March 19, 2020
Accepted: April 19, 2020
Published: April 30, 2020
Abstract
Background: Lysinuric protein intolerance (LPI) is a metabolic disorder resulting from mutations in the SLC7A7 gene that is inherited in the autosomal recessive pattern. The disease has been described sporadically worldwide, including a few cases from Arab countries. The affected patients typically present with failure to thrive, hepatosplenomegaly, and protein intolerance. Various complications such as autoimmune disorders, infiltrative lung disease, hemophagocytic lymphohistiocytosis (HLH), and neurological manifestations could be noted during the disease course. Methodology: We described patients diagnosed with LPI in Bahrain by reviewing their presentations, complications encountered, genetic variability, and treatment options. Results: Four patients, two males and two females from three families with an age range between 2 and 14 years, were followed. Failure to thrive and HLH were the main presenting features in all patients. Two novel mutations were detected in the SLC7A7 gene. One of them was a homozygous splice-site mutation of c.1429+1G>C., whereas the second mutation was a homozygous missense mutation of c.168T>G p. (Phe56Leu). Lung complications were found in two patients, autoimmunity observed in two patients, gastrointestinal complication presenting as hemorrhagic gastritis in one patient, and neurological complications were seen in one patient. Conclusion: The main presenting feature in all the patients was HLH. Two novel mutations in the SLC7A7 gene were detected. Rheumatological complications were variable within the same family members; moreover, hemorrhagic gastritis was reported in one of the patients as a new possible complication related to the disease.
Keywords: Lysinuric protein intolerance, hemophagocytic lymphohistiocytosis, pulmonary alveolar proteinosis, osteoporosis, hemorrhagic gastritis
Pubmed Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBC Genetics. 2020; 30 (April 2020): 7-13. doi:10.24911/JBCGenetics/183-1580808879
Web Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. https://www.jbcgenetics.com/index.php/articles/2145 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1580808879
AMA (American Medical Association) Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBC Genetics. 2020; 30 (April 2020): 7-13. doi:10.24911/JBCGenetics/183-1580808879
Vancouver/ICMJE Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBC Genetics. (2020), [cited April 27, 2025]; 30 (April 2020): 7-13. doi:10.24911/JBCGenetics/183-1580808879
Harvard Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim (2020) Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBC Genetics, 30 (April 2020): 7-13. doi:10.24911/JBCGenetics/183-1580808879
Chicago Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim. "Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain." 30 (2020), 7-13. doi:10.24911/JBCGenetics/183-1580808879
MLA (The Modern Language Association) Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim. "Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain." 30.April 2020 (2020), 7-13. Print. doi:10.24911/JBCGenetics/183-1580808879
APA (American Psychological Association) Style
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim (2020) Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. , 30 (April 2020), 7-13. doi:10.24911/JBCGenetics/183-1580808879