Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood or adolescence as a result of lung fibrosis. In addition to lung fibrosis, non-life-threatening liver involvement might be present, as indicated by elevated enzymes, steatosis, fibrosis, or cirrhosis. The mutations in MARS associated with ILLD have been reported.
