Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age

1994 ◽  
Vol 17 (2) ◽  
pp. 252-253 ◽  
Author(s):  
M. Candito ◽  
C. Vianey-Saban ◽  
J. P. Ferraci ◽  
B. B�bin ◽  
J. P. Chazalette ◽  
...  
Keyword(s):  
Amino Acid ◽  
Acid Excretion ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Urinary Amino ◽  
Protein Intolerance

scholarly journals Waste Nitrogen Excretion Via Amino Acid Acylation: Benzoate and Phenylacetate in Lysinuric Protein Intolerance

1986 ◽  
Vol 20 (11) ◽  
pp. 1117-1121 ◽  
Author(s):  
Olli Simell ◽  
Ilkka Sipilä ◽  
Jukka Rajantie ◽  
David L Valle ◽  
Saul W Brusilow
Keyword(s):  
Amino Acid ◽  
Nitrogen Excretion ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Protein Intolerance

Apical Transporters for Neutral Amino Acids: Physiology and Pathophysiology

Physiology ◽  
2008 ◽  
Vol 23 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Stefan Bröer
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Molecular Identification ◽  
Molecular Basis ◽  
Amino Acid Transporters ◽  
Lysinuric Protein Intolerance ◽  
Inherited Disorders ◽  
Lysinuric Protein ◽  
Hartnup Disorder ◽  
Protein Intolerance

Absorption of amino acids in kidney and intestine involves a variety of transporters for different groups of amino acids. This is illustrated by inherited disorders of amino acid absorption, such as Hartnup disorder, cystinuria, iminoglycinuria, dicarboxylic aminoaciduria, and lysinuric protein intolerance, affecting separate groups of amino acids. Recent advances in the molecular identification of apical neutral amino acid transporters has shed a light on the molecular basis of Hartnup disorder and iminoglycinuria.

scholarly journals Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations

2013 ◽  
Vol 32 (04) ◽  
pp. 479-488 ◽  
Author(s):  
Minna Toivonen, ◽  
Maaria Tringham ◽  
Johanna Kurko ◽  
Perttu Terho ◽  
Olli Simell ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Transporter ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Acid Transporter ◽  
Protein Intolerance

scholarly journals The Genetics of Heteromeric Amino Acid Transporters

Physiology ◽  
2005 ◽  
Vol 20 (2) ◽  
pp. 112-124 ◽  
Author(s):  
Manuel Palacín ◽  
Virginia Nunes ◽  
Mariona Font-Llitjós ◽  
Maite Jiménez-Vidal ◽  
Joana Fort ◽  
...  
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Mouse Models ◽  
Knockout Mouse ◽  
Amino Acid Transporters ◽  
Lysinuric Protein Intolerance ◽  
Lysinuric Protein ◽  
Recent Developments ◽  
Hartnup Disorder ◽  
Protein Intolerance

Heteromeric amino acid transporters (HATs) are composed of a heavy ( SLC3 family) and a light ( SLC7 family) subunit. Mutations in system b0,+ (rBAT-b0,+AT) and in system y+L (4F2hc-y+LAT1) cause the primary inherited aminoacidurias (PIAs) cystinuria and lysinuric protein intolerance, respectively. Recent developments [including the identification of the first Hartnup disorder gene (B0AT1; SLC6A19)] and knockout mouse models have begun to reveal the basis of renal and intestinal reabsorption of amino acids in mammals.

Lysinuric Protein Intolerance and Hartnup Disease

2016 ◽  
Author(s):  
Gianfranco Sebastio ◽  
Manuel Schiff ◽  
Hélène Ogier de Baulny
Keyword(s):  
Amino Acid ◽  
Renal Disease ◽  
Chronic Renal Disease ◽  
Basolateral Membrane ◽  
Neurological Involvement ◽  
Lysinuric Protein Intolerance ◽  
Cationic Amino Acid ◽  
Transporter Family ◽  
Lysinuric Protein ◽  
Protein Intolerance

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. Symptoms usually begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, and neurological involvement including hyperammonemic coma will progressively appear. Lung involvement (specifically pulmonary alveolar proteinosis), chronic renal disease that may lead to end stage renal disease, and hemophagocytic lymphohistiocytosis with macrophage activation all represent complications of LPI that may appear at any time from childhood to adulthood. The great variability of the clinical presentation frequently causes misdiagnosis or delayed diagnosis. The basic therapy of LPI consist of a low-protein diet, low-dose citrulline supplementation, nitrogen-scavenging compounds to prevent hyperammonemia, lysine, and carnitine supplements.

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