Lysinuric protein intolerance
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Lysinuric protein intolerance | |
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Other names | Hyperdibasic aminoaciduria type 2,Cationic aminoaciduria or Familial protein intolerance |
Lysine | |
Specialty | Endocrinology |
Lysinuric protein intolerance (LPI) is an
transport.About 140 patients have been reported, almost half of them of Finnish origin. Individuals from Japan, Italy, Morocco and North Africa have also been reported plus one in Bixby, Oklahoma.
Signs and symptoms
Causes
It has been associated with
Mechanism
In LPI,
Diagnosis
The diagnosis is based on the biochemical findings (increased concentrations of lysine, arginine and ornithine in urine and low concentrations of these amino acids in plasma, elevation of urinary orotic acid excretion after protein-rich meals, and inappropriately high concentrations of serum ferritin and lactate dehydrogenase isoenzymes) and the screening of known mutations of the causative gene from a DNA sample.[citation needed]
Treatment
Treatment of LPI consists of protein-restricted diet and supplementation with oral *GeneReview/NIH/UW entry on Lysinuric Protein Intolerance citrulline. Citrulline is a neutral amino acid that improves the function of the urea cycle and allows sufficient protein intake without hyperammonemia.[citation needed]
Prognosis
Under proper dietary control and supplementation, the majority of the LPI patients are able to have a nearly normal life. However, severe complications including pulmonary alveolar proteinosis and chronic kidney disease may develop even with proper treatment.[4]Fertility appears to be normal in women, but mothers with LPI have an increased risk for complications during pregnancy and delivery.[5]