Lysinuric protein intolerance

disorder

SNOMED 303852004CUI C0268647

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hypolysinemia

Always present (100%)HP:0500142

Mental and motor retardation

Always present (100%)HP:0001263

Protein avoidance

Very frequent (80-99%)HP:0002038

Undergrowth

Very frequent (80-99%)HP:0001508

Abnormal circulating serine concentration

Frequent (30-79%)HP:0012278

Alveolar proteinosis

Frequent (30-79%)HP:0006517

Bleeding tendency

Frequent (30-79%)HP:0001892

Blood in urine

Frequent (30-79%)HP:0000790

Bone marrow hypercellularity

Frequent (30-79%)HP:0031020

Central hypotonia

Frequent (30-79%)HP:0001252

Cirrhosis

Frequent (30-79%)HP:0001394

CKD

Frequent (30-79%)HP:0012622

Decreased glomerular filtration rate

Frequent (30-79%)HP:0012213

Decreased haemoglobin

Frequent (30-79%)HP:0001903

Decreased HDL cholesterol concentration

Frequent (30-79%)HP:0003233

Diarrhea

Frequent (30-79%)HP:0002014

Elevated plasma citrulline

Frequent (30-79%)HP:0011966

Elevated serum cholesterol

Frequent (30-79%)HP:0003124

Enlarged liver

Frequent (30-79%)HP:0002240

Fat in feces

Frequent (30-79%)HP:0002570

Feeding difficulties

Frequent (30-79%)HP:0011968

Glomerulonephritis

Frequent (30-79%)HP:0000099

Growth deficiency

Frequent (30-79%)HP:0001510

Hemophagocytosis

Frequent (30-79%)HP:0012156

Hepatic insufficiency

Frequent (30-79%)HP:0001399

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

High blood ammonia levels

Frequent (30-79%)HP:0001987

High plasma glutamine

Frequent (30-79%)HP:0003217

High urine arginine levels

Frequent (30-79%)HP:0003268

Hyperalaninemia

Frequent (30-79%)HP:0003348

Related Conditions

Dibasic aminoaciduria(child)

Lysinuric protein intolerance, type 1(child)

Lysinuric protein intolerance, type 2(child)

Amino acid transport disorder(parent)

Quick Facts

SNOMED CT: 303852004
UMLS CUI: C0268647
Fully Specified Name: Lysinuric protein intolerance (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.