Authors
- Mohammed Alzaid, From the Department of Pediatrics (Alzaid, Alshamrani, Al Harbi, Alenzi, Mohamed), Prince Sultan Military Medical City, and from Prince Abdullah bin Khalid Celiac Disease Research chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
- Abdullah Alshamrani, From the Department of Pediatrics (Alzaid, Alshamrani, Al Harbi, Alenzi, Mohamed), Prince Sultan Military Medical City, and from Prince Abdullah bin Khalid Celiac Disease Research chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
- Ayed Alenzi, From the Department of Pediatrics (Alzaid, Alshamrani, Al Harbi, Alenzi, Mohamed), Prince Sultan Military Medical City, and from Prince Abdullah bin Khalid Celiac Disease Research chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
- Sarar Mohamed, From the Department of Pediatrics (Alzaid, Alshamrani, Al Harbi, Alenzi, Mohamed), Prince Sultan Military Medical City, and from Prince Abdullah bin Khalid Celiac Disease Research chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia
Abstract
The methionyl-tRNA synthetase (MARS) mutation is a very rare cause of congenital pulmonary alveolar proteinosis. We report a 6-month-old boy born with symmetrical intrauterine growth retardation presented with unexplained persistent tachypnea and hypoxemia associated with severe failure to thrive, anemia, hypoalbuminemia and hepatomegaly. Detailed pulmonary investigations including computed tomography chest scan, bronchoscopy and bronchoalveolar lavage revealed pulmonary alveolar proteinosis. Whole exome sequencing identified a homozygous novel variant in the MARS gene, c.854T>C p.(Ile285Thr).
Recommended Citation
Alzaid, Mohammed; Alshamrani, Abdullah; Alenzi, Ayed; and Mohamed, Sarar
(2019)
"Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis,"
Saudi Medical Journal: Vol. 40:
Iss.
2, Article 13.
DOI: https://doi.org/10.15537/smj.2019.2.23908
DOWNLOADS
Since April 09, 2026
COinS
