Conditions / Genetic
lysinuric protein intolerance
info · Genetic
An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingesti
An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
Signs and symptoms
- Hyperlysinuria
- Hypolysinemia
- Global developmental delay
- Protein avoidance
- Osteoporosis
- Hepatomegaly
- Anemia
- Stage 5 chronic kidney disease
- Aminoaciduria
- Short stature
Also known as: LPI; dibasic amino aciduria II; hyperdibasic aminoaciduria