lysinuric protein intolerance(redirected from Dibasic aminoaciduria 2)
ly·sin·ur·ic pro·tein in·tol·er·ance[MIM*222700]
an autosomal recessive disorder characterized by elevated levels of dibasic amino acids (for example, l-lysine, l-arginine, and l-ornithine) in the urine; apparently due to a defect in dibasic amino acid transport.
Farlex Partner Medical Dictionary © Farlex 2012
lysinuric protein intoleranceAn autosomal recessive disorder (OMIM:222700), more commonly seen in Finland and Italy, characterised by a defect in the plasma membrane transport of dibasic amino acids. On normal diets, these patients present with poor feeding, vomiting, diarrhoea, episodic hyperammonaemic coma and growth retardation, variably accompanied by hepatosplenomegaly, osteoporosis and life-threatening pulmonary alveolar proteinosis.
Defects of SLC7A7, which encodes a protein involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids, cause lysinuric protein intolerance.
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