No	☐
Yes	⊠
	Therapy (please describe)	Acute treatment in the patients who experienced severe hyperammonemia is similar to other UCDs [16]. Long-term treatment consists of a low-protein diet (1–1.5 g/kg/day in children and 0.5–0.8 g/kg/day in adults) supplemented with citrulline (<100 mg/kg/day), and occasionally arginine or ornithine. Lysine supplementation is controversial. Protein restriction may be combined with sodium benzoate or sodium phenylbutyrate. Careful monitoring of ammonia, amino acid profiles, and orotic acid is necessary to verify individual tolerance and avoid malnutrition.
	Prognosis (please describe)	Early identification of this disorder is crucial, in order to prevent severe episodes of hyperammonemia that may cause irreversible neurological damage. Late onset complication are less responsive to pharmacological and dietary treatment, but establishing the diagnosis can help to anticipate organ damage through a careful monitoring, ameliorating the overall prognosis.
	Management (please describe)	Avoidance of metabolic decompensations, nutritional, management, and prevention of specific complications are the major therapeutic objectives. While hyperammonemia can be efficiently treated, no effective therapy has been established for late and multiorgan complications. For treatment of lung disease, various approaches (high-dose corticosteroid, granulocyte/monocyte colony stimulating factor in patients with PAP) have been tried, without overt clinical benefit. Lung lavage still remains the best therapeutic approach for PAP in LPI, but recently bone marrow transplantation (aimed to correct macrophage defects) have been proposed as a possible treatment [14]. Heart-lung transplantation is contraindicated, as demonstrated by the fatal disease relapse in a transplanted patient [16]. Specific therapies for kidney complications, immunological dysfunction (HLH/MAS), and osteoporosis should be used under the supervision of medical specialists following standardized protocols. Some patients with MAS/glomerulonephritis and autoimmune manifestations responded to immunosuppressive drugs or high-dose immunoglobulin infusion. LPI requires regular life-long surveillance in order to avoid side effects of treatments (i.e., malnutrition and low-intake of essential amino acids) and to diagnose/treat specific organ complications.