[Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]].

Abstract

Lysinuric protein intolerance is an autosomal recessive disease, due to a defect in intestinal, renal and hepatic dibasic amino acid transport. Two new cases in the same family are reported. The disease appears progressively during the first months of life with failure to thrive, anorexia, vomiting, diarrhea, hepatosplenomegaly, muscular weakness, osteoporosis, anemia, leukothrombocytopenia, hyperammonemia and orotic aciduria after a high-protein intake. Hyperdibasicamino-aciduria was associated with subnormal plasma concentrations of the same aminoacids. Oral l-arginine, l-ornithine, l-lysine, and lysyl-glycine loads confirmed the diagnosis. The supplementation of the diet with l-citrulline resulted in normal levels of blood ammonia. However, hepatosplenomegaly, muscular weakness, osteoporosis remained unchanged and growth was not improved. These may be due to lysine deficiency.

• Authors: F X Coude, H Ogier, C Charpentier, L Cathelineau, G Grimber, P Parvy, J M Saudubray, J Frezal
• Journal: Archives francaises de pediatrie (Arch Fr Pediatr) Vol. 38 Suppl 1 Pg. 829-35 (Dec 1981) ISSN: 0003-9764 [Print] France
• Vernacular Title: L'intolérance aux protéines avec lysinurie: une hyperammoniémie sévère par carence en L-arginine.
• PMID: 6800334 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Ammonia
• Arginine
• Ornithine
• Lysine

Topics

• Amino Acid Metabolism, Inborn Errors (genetics, metabolism, therapy)
• Ammonia (blood)
• Arginine (deficiency, urine)
• Female
• Humans
• Infant
• Lysine (urine)
• Male
• Ornithine (urine)
• Time Factors