Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation.

Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated.

Citation

Jee-Min Kim, Seul-Ki Kim, Shin-Hee Kim, Won-Kyoung Cho, Kyoung-Soon Cho, Min-Ho Jung, Byung-Kyu Suh, Moon-Bae Ahn. Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation. Medicina (Kaunas, Lithuania). 2021 Jun 07;57(6)

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PMID: 34200146

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