Original Article
JBCGenetics. 2020; 3(1): 7-13

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.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1580808879

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


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Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain


Authors
Emtithal Aljishi
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
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Zahra Alsahlawi
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
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Mohammed Taha
Arabian Gulf University, Manama, Kingdom of Bahrain
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Abdulla Alshaiji
Arabian Gulf University, Manama, Kingdom of Bahrain
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Zakiya Almosawi
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
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Osama Abelkarim
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
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Hasan Isa
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
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Khulood Alsaad
Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain
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Ali Ebrahim
Alhekmha Pediatric Consultation Clinic, Manama, Kingdom of Bahrain
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Correspondence to:
. Emtithal Aljishi, Pediatric Department, Salmaniya Medical Complex, Kingdome of Bahrain.; ejishi@health.gov.bh

Publication history
Received 04 Feb 2020
Revised 19 Mar 2020
Accepted 19 Apr 2020
Published online 30 Apr 2020
Published in print 27 May 2020

How to cite this article

Pubmed Style

Aljishi E, Alsahlawi Z, Taha M, Alshaiji A, Almosawi Z, Abelkarim O, Isa H, Alsaad K, Ebrahim A. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBCGenetics. 2020; 3(1): 7-13. doi:10.24911/JBCGenetics/183-1580808879


Web Style

Aljishi E, Alsahlawi Z, Taha M, Alshaiji A, Almosawi Z, Abelkarim O, Isa H, Alsaad K, Ebrahim A. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. https://www.jbcgenetics.com//?mno=85358 [Access: October 27, 2020]. doi:10.24911/JBCGenetics/183-1580808879


AMA (American Medical Association) Style

Aljishi E, Alsahlawi Z, Taha M, Alshaiji A, Almosawi Z, Abelkarim O, Isa H, Alsaad K, Ebrahim A. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBCGenetics. 2020; 3(1): 7-13. doi:10.24911/JBCGenetics/183-1580808879


Vancouver/ICMJE Style

Aljishi E, Alsahlawi Z, Taha M, Alshaiji A, Almosawi Z, Abelkarim O, Isa H, Alsaad K, Ebrahim A. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBCGenetics. (2020), [cited October 27, 2020]; 3(1): 7-13. doi:10.24911/JBCGenetics/183-1580808879


Harvard Style

Aljishi, E., Alsahlawi, . Z., Taha, . M., Alshaiji, . A., Almosawi, . Z., Abelkarim, . O., Isa, . H., Alsaad, . K. & Ebrahim, . A. (2020) Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. JBCGenetics, 3 (1), 7-13. doi:10.24911/JBCGenetics/183-1580808879


Turabian Style

Aljishi, Emtithal, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, and Ali Ebrahim. 2020. Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. Journal of Biochemical and Clinical Genetics, 3 (1), 7-13. doi:10.24911/JBCGenetics/183-1580808879


Chicago Style

Aljishi, Emtithal, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, and Ali Ebrahim. "Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain." Journal of Biochemical and Clinical Genetics 3 (2020), 7-13. doi:10.24911/JBCGenetics/183-1580808879


MLA (The Modern Language Association) Style

Aljishi, Emtithal, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, and Ali Ebrahim. "Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain." Journal of Biochemical and Clinical Genetics 3.1 (2020), 7-13. Print. doi:10.24911/JBCGenetics/183-1580808879


APA (American Psychological Association) Style

Aljishi, E., Alsahlawi, . Z., Taha, . M., Alshaiji, . A., Almosawi, . Z., Abelkarim, . O., Isa, . H., Alsaad, . K. & Ebrahim, . A. (2020) Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain. Journal of Biochemical and Clinical Genetics, 3 (1), 7-13. doi:10.24911/JBCGenetics/183-1580808879


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