Lokuhewage, C.; Pathiraja, H.; Madawala, P.; Bandara, S.; Mettananda, S.
(BioMed Central, 2023)
BACKGROUND: Lysinuric protein intolerance is a rare inherited metabolic disease due to autosomal recessive mutations of the SLC7A7 gene. The affected patients commonly present with protein-rich food intolerance, failure ...