{"product_id":"dibasic-protein-intolerance-von-elhem-jbebli","title":"DIBASIC PROTEIN INTOLERANCE","description":"\u003cp\u003eDibasic protein intolerance is a rare inherited disorder caused by a defect in membrane transport of dibasic amino acids. It is caused by a mutation in the SLC7A7 gene. It is a multisystemic metabolic disease. Its management is made difficult by the complexity of its pathophysiology. The median age of onset was 9 months. The median age at diagnosis was 21 months. Growth retardation (n=7) and hepatosplenomegaly (n=6) were almost constant signs of the disease, followed by protein aversion (n=5), pallor (n=5) and neurological signs (n=4). Ammonia was elevated in 6 patients. Amino acid chromatography supported the diagnosis in two patients. Molecular biology revealed the del TTCT 1471 mutation in 5 patients. A low-protein diet and citrulline supplementation were prescribed in all patients. Complications of the disease were frequent: growth retardation was noted in all patients.\u003c\/p\u003e\u003cdiv class=\"aw-variant-hidden-subtitle-div\" id=\"aw-variant-subtitle-9786207699186\"\u003e\u003ch3\u003eStraddling the metabolic and autoimmune divides\u003c\/h3\u003e\u003c\/div\u003e","brand":"Autorenwelt Shop","offers":[{"title":"Softcover - 9786207699186","offer_id":49649015357765,"sku":"9786207699186","price":43.9,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0940\/0622\/files\/8170704d-f12d-407e-a1f4-f25e52f5f27b.jpg?v=1769926755","url":"https:\/\/shop.autorenwelt.de\/products\/dibasic-protein-intolerance-von-elhem-jbebli","provider":"Autorenwelt Shop","version":"1.0","type":"link"}