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Article

Unusual association between lysinuric protein intolerance and moyamoya vasculopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2016

Ghilain Valérie, Wiame Elsa, Fomekong Edward, Vincent Marie-Françoise, Dumitriu Dana, Nassogne Marie-Cécile

Abstract excerpt

INTRODUCTION: Lysinuric protein intolerance (LPI) is a form of inherited aminoaciduria caused by a deficiency in the cationic amino acid transport process on the basolateral membrane of enterocytes and renal tubular cells. Clinical signs include gastrointestinal symptoms, failure to thrive, hepatosplenomegaly, osteoporosis, episodes of coma, intellectual deficiency, lung and renal involvement, bone marrow...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27321952
DOI: 10.1016/j.ejpn.2016.05.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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