Catalog

Lysinuric protein intolerance

No MMS code

Link to WHO Definition

Lysinuric protein intolerance – http://id.who.int/icd/entity/972050440

Lysinuric protein intolerance is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism. Affected patients may present with vomiting, diarrhea, failure to thrive, hepatosplenomegaly, bone marrow abnormalities, osteopenia, episodes of hyperammoniaemic coma, intellectual deficit, altered immune response, chronic renal disease, and lung involvement (mostly pulmonary alveolar proteinosis - PAP - and, to a lesser extent, interstitial lung disease). The metabolic disturbance in LPI causes increased renal excretion and reduced absorption from intestine of cationic amino acids, and orotic aciduria. LPI is caused by mutations of solute carrier family 7A member 7 (SLC7A7) located at chromosome 14q11.2.