Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy

Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy

We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (HLH), decreased bone mineral density and multiple...

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Bibliographic Details
Main Authors: Sarah Al-Qattan, Caroline Malcolmson, Saadet Mercimek-Andrews
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Lysinuric protein intolerance
Hemophagocytic lymphohistiocytosis
Hyperammonemia
Osteoporosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000355

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