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Dibasic Protein Intolerance
Product Code:
9786207699186
ISBN13:
9786207699186
Condition:
New
$47.80
Dibasic Protein Intolerance
$47.80
Dibasic 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.
| Author: Elhem Jbebli |
| Publisher: Our Knowledge Publishing |
| Publication Date: Jun 26, 2024 |
| Number of Pages: 56 pages |
| Binding: Paperback or Softback |
| ISBN-10: 6207699181 |
| ISBN-13: 9786207699186 |
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