60: Persistent hereditary neonatal hypoglycaemia caused by glucagon deficiency

Abstract

A Pakistanian boy with a family history of infant deaths from hypoglycaemia, was transferred to our clinic shortly after birth because of hypoglycaemic seizures. After some initial improvement, his condition became critical, with up to 15 seizures daily. His insulin values, triglycerides, FFA, and ketones were normal, but his gluconeogenesis from ¹⁴C-alanine was severely impaired, and despite severe hypoglycaemia, glucagon values were at the lower detection limit of our assay. Stimulation with alanine i.v. resulted in no rise. Therapy was started with glucagon i.m. 6 times daily, then after 5 days with zink-protamine-glucagon s.c. twice daily. This therapy resulted in immediate cessation of the seizures, while blood glucose started rising at day 3. Gluconeogenesis increased three times. After one week he had improved dramatically, and his blood glucose values were within normal limits. After three weeks the EEG had normalized, and he was deemed psychomotorically normal. Discontinuation of glucagon therapy resulted in a relapse, and it had to be resumed. After two months the amount of glucagon had to be gradually increased, possibly because of antibody production. A similar case of hypoglycaemia because of glucagon deficiency, verified with glucagon determination, has not previously been described.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD