Lysinuric protein intolerance

Lysinuric protein intolerance. Infants manifest growth failure, hepatosplenomegaly, vomiting, hypotonia, recurrent lethargy, coma, abdominal pain and, in rare instances,... 

Table 2.1.9 Changes of blood amino acids in various primary inherited defects and as a result of secondary changes. ASA Argininosuccinic acid, CPS carbamoyl phosphate synthase, LPI Lysinuric protein intolerance, MAD multiple acyl-CoA dehydrogenation, MSUD maple syrup urine disease, NAGS N-acetylglutamate synthase, NKH nonketotic hyperglycinemia, NTBC 2-(2-nitro-4-3 trifluoro-methylbenzoyl)-1,3-cyclohexanedione, OCT Ornithine carbamoyltransferase,...

A number of amino acid transport disorders may be associated with one or several of the systems described in Table 20.4. These are characterized by the excretion of amino acids in the urine but no increase in amino acid levels in the bloodstream. They are usually of hereditary origin. The most common disorder is cystinuria, characterized by the excretion of cystine. Because cystine is only slightly water soluble, cystinuria is often accompanied by the deposition of cystine-containing stones in the genitourinary tract. Cystinuria is apparently caused by a defect in the cationic amino acid transport system. Another disease that affects this system is lysinuric protein intolerance, which is associated with a failure to transport lysine, ornithine, arginine, and citrulline across membranes. Citrulline and ornithine are urea cycle intermediates (see later), and a disruption of their interorgan traffic results in hyperammonemia. 

SLC7 Cationic amino acid transporter 14 Melphalan Lysinuric protein intolerance... 

Other, more specific, transporter dysfunctions lead to distinct inborn errors of metabolism. Oxaluria and cystinuria, defects in oxalate and cysteine transport, respectively, manifest with renal stones. Cystinuria specifically presents with cysteine, ornithine, lysine, and arginine in the urine. The latter should not be confused with cystinosis. Lysinuric protein intolerance (LPI) is a defect in the dibasic amino acid transporter. This results in a specific amino aciduria pattern (ornithine, lysine, and arginine), which in turn results in secondary inhibition of the urea cycle. Individuals affected by LPI are at risk for hyperammonemia and also have a unique susceptibility to macrophage activation syndrome, an exaggerated systemic inflammatory response, and alveolar proteinosis. Renal damage... 

Hyperoxaluria type 1 Hyp erammo nem i a Dibasic aminoaciduria Lysinuric protein intolerance MCAD... 

Methylmalonic acidemia Propionic acidemia Carbamyl phosphate synthetase def. Lysinuric protein intolerance Hereditary orotic aciduria Wilson disease... 

Methylcrotonyl-CoA carboxylase deL Methylmalonic acidemia Propionic acidemia Lysinuric protein intolerance 3-Phosphoglycerate dehydrogenase def. 

Lysinuric protein intolerance Hereditary orotic aciduria Pyrimidine-5-nucleotidase def. Familial LCAT def. Wilson disease Acid lipase def. (Wolman disease) 3-Phosphoglycerate dehydrogenase deL Methylentetrahydrofolate reductase def. Methioninsynthase def. 

Familial forms of follicular bronchiolitis Immunodeficiency Lysinuric protein intolerance Ataxia-T elangiectasia IgA nephropathy... 

Lung or heart-lung transplantation has been performed for refractory PAP, but data are limited to case reports (105,106) and a small series in infants (n = 3) (107). Recurrent (and ultimately fatal) PAP developed in a child with lysinuric protein intolerance and PAP within 18 months of heart-lung transplantation (105). In an adult who underwent bilateral lung transplant for refractory PAP, the... 

Santamaria F, Brancaccio G, Parenti G, et al. Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. J Pediatr 2004 145(2) 268-272. 

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