Preferred Label : Lysinuric protein intolerance;
ICD-11 definition : Lysinuric protein intolerance is a very rare inherited multisystem condition caused
by distrubance 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.;
ICD-11 synonym : Congenital lysinuria; LPI - [Lysinuric protein intolerance];
ICD-11 acronym : LPI;
Origin ID : 972050440;
UMLS CUI : C0268647;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- False automatic mappings
- Semantic type(s)
- UMLS correspondences (same concept)
Lysinuric protein intolerance is a very rare inherited multisystem condition caused
by distrubance 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.
