lysinuric protein intolerance
MeSH: C562687ORPHA: 470
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with lysinuric protein intolerance, sourced from HPO and Orphanet clinical annotations.
Failure to thriveAbnormal renal tubule morphologyProteinuriaGlomerulonephritisNephrocalcinosisRenal tubular dysfunctionHematuriaOsteopeniaOsteoporosisIntellectual disabilityCirrhosisHepatic failureHepatosplenomegalyGrowth delayThrombocytopeniaDecreased total leukocyte countAbnormal bleedingAnemiaHyperammonemiaVomitingDiarrheaRespiratory insufficiencyHyperglycinemiaHypertriglyceridemiaHepatomegalySteatorrheaDelayed skeletal maturationElevated circulating hepatic transaminase concentrationHypercholesterolemiaIncreased LDL cholesterol concentrationHyperglutaminemiaDecreased HDL cholesterol concentrationArgininuriaHyperlysinuriaHyperalaninemiaIntraalveolar phospholipid accumulationAbnormal pulmonary interstitial morphologyHyperprolinemiaFloppy infantElevated plasma citrullineFeeding difficultiesHemophagocytosisDecreased glomerular filtration rateAbnormal circulating serine concentrationOral aversionChronic kidney diseaseIncreased circulating lactate dehydrogenase concentrationBone marrow hypercellularityCognitive impairmentHypertensionLethargyComaAbnormal heart morphologyPancreatitisRenal amyloidosisRenal tubular acidosisTubulointerstitial nephritisPulmonary fibrosisOroticaciduriaIncreased circulating ferritin concentrationOrnithinuriaAbnormality of humoral immunityMegakaryocytopeniaAbnormal circulating immunoglobulin concentrationIncreased serum zincHypofibrinogenemiaHepatic amyloidosisMembranous nephropathyAnti-dsDNA antibody positivityRenal fibrosisDecreased response to growth hormone stimulation testRecurrent bacterial infectionsPathologic fractureAntinuclear antibody positivityDecreased circulating immunoglobulin concentrationReduced circulating complement concentrationIncreased circulating immunoglobulin concentration
Classification & Codes
MeSH Code
C562687Orphanet Code
ORPHA:470lysinuric protein intolerance
| MeSH | C562687 |
| Orphanet | ORPHA:470 |
| Treatments | 0 drug(s) |
| Symptoms on record | 77 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO