Articles liés à DIBASIC PROTEIN INTOLERANCE: Straddling the metabolic...

DIBASIC PROTEIN INTOLERANCE: Straddling the metabolic and autoimmune divides - Couverture souple

JBEBLI, ELHEM

 
9786207699186: DIBASIC PROTEIN INTOLERANCE: Straddling the metabolic and autoimmune divides
Couverture souple
ISBN 10 : 6207699181 ISBN 13 : 9786207699186
Editeur : Our Knowledge Publishing, 2024

Synopsis

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.

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Éditeur
Our Knowledge Publishing
Date d'édition
2024
Langue
anglais
ISBN 10 
6207699181
ISBN 13 
9786207699186
Reliure
Broché
Nombre de pages
56
Coordonnées du fabricant
non disponible
Personne responsable
non disponible