Definition:
Lysinuric protein intolerance, also known as hyberdibasic aminoaciduria type 2 or familial protein intolerance, is a autosomal recessive disorder of amino acid transport.
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.)
Treatment:
Treatment includes protein restriction diet and citrulline supplement.
Symptoms and Signs:
Symptoms often include vomiting and diarrhea, poor appetite, growth retardation and enlargement of the liver.
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.
:
lysinuricproteinintolerance
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