Definition:
Dibasic aminoaciduria type 2 also called lysinuric protein intolerance (LPI) or familial protein intolerance is an amino acid transport disorder. The excretion of cationic amino acid (composed of ornithine, arginine, and lysine) in the kidney is increase. Cationic amino acid is a kind of amino acid does not absorb well in the intestine. Deficiency of arginine and ornithine stops the urea cycle which will cause hyperammonemia after protein rich intake
Diagnosis:
LPI disease is diagnose through biochemical examination of the urine and mutation gene testing from the DNA.
Symptoms and Signs:
During infant, it is usually symptoms free when the patient is breastfed because human milk have low protein content but later the infant may vomit. The patient will also manifest failure to thrive, loss of appetite, enlargement of liver and spleen, growth retardation, degeneration of the bone may develop, delayed bone age and protein aversion. Convulsion and coma may happen if protein intake is continued.
Causes:
LPI is acquired through Genes,both parents of the patient may be carrier of the disease. There is no known cure of this disease but patient are restricted to protein diet and oral citruline supplementation (a neutral amino acid that promotes urea cycle) are advice to prevent and correct hyperammonemia.
:
dibasicaminoaciduriatype2
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
