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Article

Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution.

Journal of pediatric endocrinology & metabolism : JPEM - 26 May 2020

Brandt Agnieszka, Agarwal Neha, Giri Dinesh, Yung Zoe, Didi Mohammad, Senniappan Senthil

Abstract excerpt

Background The hyperinsulinism/hyperammonaemia (HI/HA) syndrome is the second most common cause of hyperinsulinaemic hypoglycaemia, caused by activating mutations in GLUD1. In this article, we report a series of three unrelated patients with HI/HA syndrome who demonstrated variable phenotypes, ranging from delayed presentation to spontaneous resolution of hypoglycaemia, thereby expanding the current knowledge and...

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Identifiers

PMID: 32229669
DOI: 10.1515/jpem-2019-0416

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