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Start Over Author "Ben Abbou, Wafa" Topic rare diseases
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1. Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

Author

Dimitriou, Christos, Saliba, Souha, Peyrassol, Xavier, Ben Abbou, Wafa, Nassogne, Marie Cécile, Neugroschl, Carine, Wiame, Elsa, De Leener, Anne, and Cassart, Marie

Subjects
GENETIC mutation, PRENATAL diagnosis, PROTEINS, RARE diseases, FETUS
Abstract

We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications. [ABSTRACT FROM AUTHOR]

Published
2020
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