Living with Lysinuric protein intolerance
An inherited condition in which the body can't absorb certain protein building blocks, causing nausea after protein-rich foods and other problems.
Understanding Lysinuric protein intolerance
Amino acids are protein building blocks found in protein-rich foods. People often feel nauseous and vomit after eating protein. Other features can include an enlarged liver and spleen, short stature, muscle weakness, brittle bones, and kidney problems. Signs typically appear after infants are weaned and eat more protein from solid foods.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nausea and vomiting after protein
- Kidney tube problems
- Chronic kidney disease
- Blood in the urine
- Bleeding tendency
- Cognitive impairment
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC7A7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SLC7A7 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: congenital lysinuria; dibasic amino aciduria ii; hyperdibasic aminoaciduria; hyperdibasic aminoaciduria type 2; lpi; lpi - lysinuric protein intolerance
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lysinuric protein intolerance.
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