Alterations of arginine in Lysinuric Protein Intolerance (LPI) macrophages

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Pulmonary manifestations in lysinuric protein intolerance.

STUDY OBJECTIVES To evaluate the pulmonary manifestations and the course of acute respiratory insufficiency associated with lysinuric protein intolerance (LPI). DESIGN Retrospective review of clinical data and chest radiographs (total 225) obtained during the lifetime follow-up of 31 LPI patients. About half of the 25 patients without respiratory symptoms underwent high-resolution computed to...

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Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance.

Although L-arginine is the only substrate for nitric oxide (NO) production, no studies have yet been reported on the effect of an L-arginine deficiency on vascular function in humans. Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of dibasic amino acid transport caused by mutations in the SLC7A7 gene, resulting in an L-arginine deficiency. Vascular endothelial function...

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Recurrent stupor due to lysinuric protein intolerance.

Recurrent stupor in children is an uncommon clinical problem with a wide differential diagnosis; inherited metabolic disorders account for a vast majority. We report a 9-year-old girl with recurrent episodes of stupor. Initial episode was treated as viral encephalitis and the second episode was managed as non-convulsive status epilepticus. Hyperammonemia was detected in the last episode. Metabo...

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Lysinuric protein intolerance: one gene, many problems.

AMINO ACIDS are efficiently absorbed in intestine and kidney by epithelial cells endowed with transporters for specific groups of amino acids. Inherited renal aminoacidurias arise as a result of mutations inactivating apical or basolateral transport systems. Although aminoacidurias are diagnosed by urine amino acid analysis, most of the disorders affect both intestinal and renal transport. In t...

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Lysinuric protein intolerance presenting with multiple fractures

Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in SLC7A7, which encodes a component of the dibasic amino acid transporter found in intestinal and renal tubular cells. Patients typically present with vomiting, diarrhea, irritability, failure to thrive, and symptomatic hyperammonemia after protein-rich meals. Long-term complication...

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ژورنال

عنوان ژورنال: The FASEB Journal

سال: 2013

ISSN: 0892-6638,1530-6860

DOI: 10.1096/fasebj.27.1_supplement.lb475