Genetic homogeneity of lysinuric protein intolerance
نویسندگان
چکیده
منابع مشابه
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...
متن کاملLysinuric 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...
متن کاملLysinuric 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...
متن کاملFanconi syndrome with lysinuric protein intolerance
We present the case of a 9-year-old child with lysinuric protein intolerance and Fanconi syndrome. She was referred to our hospital with a persistent metabolic acidosis and polyuria. Renal investigations revealed all laboratory signs of Fanconi syndrome, with glucosuria, generalized aminoaciduria, phosphaturia and severe hypercalciuria. The diagnosis of Fanconi syndrome was confirmed by a renal...
متن کاملPulmonary 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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 1998
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200236