Lysinuric Protein Intolerance
Lysinuric Protein Intolerance Causes
The cause of the disease is often linked to the increased excretion of the cationic amino acids. Deficiency of lysine also plays a vital role in causing the disease.
Lysinuric Protein Intolerance Definition
Lysinuric protein intolerance, also known as hyberdibasic aminoaciduria type 2 or familial protein intolerance, is a autosomal recessive disorder of amino acid transport.
Lysinuric Protein Intolerance Diagnosis
Diagnosis includes biochemical findings and screening of known mutations of the causative gene from a DNA sample (Simell O, et al (1975) "Lysinuric protein intolerance". Am J Med. 59(2):229-40.)
Lysinuric Protein Intolerance Symptoms and Signs
Symptoms often include vomiting and diarrhea, poor appetite, growth retardation and enlargement of the liver.
Lysinuric Protein Intolerance Treatment
Treatment includes protein restriction diet and citrulline supplement.