Use of Leucine in a Patient With Shwachman-Diamond Syndrome: A Clinical Case

Schwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease from the group of ribosomopathies characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, malnutrition, protein-energy malnutrition, growth retardation, skeletal abnormalities and a predisposition to the development of myelodysplastic syndrome and acute myeloid leukemia. Severe hematological disorders, a high risk of developing MDS/AML, with a high percentage of unfavorable outcomes, prompted the consideration of alternative routes for the therapy in these circumstances. The possibility for the use of L-leucine, an essential amino acid, as a pathogenetic therapy in patients with severe dyshematopoiesis in SDS by analogy with its use in another ribosomopathy disease, Diamond-Blackfan anemia (DBA), is discussed in the Article.