Journal
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volume 29, Issue 3, Pages 385-388Publisher
WALTER DE GRUYTER GMBH
DOI: 10.1515/jpem-2015-0276
Keywords
diazoxide; GLUD1; hyperinsulinism-hyperammonemia (HI/HA); missense mutation; neurodevelopment
Categories
Funding
- National Natural Science Foundation of China [81501291]
Ask authors/readers for more resources
Hyperinsulinism-hyperammonemia (HI/HA) syndrome, often characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia, is the second most frequent cause of the congenital hyperinsulinism (CHI). Here, we reported a patient with normal birth weight, repeated seizures, untreatable hypoglycemia, and persistent, mild hyperammonemia. The genetic diagnosis revealed that the patient carried a heterozygous, de novo missense mutation (N410I, c.1401A > T) in the glutamate dehydrogenase 1 gene (GLUD1). The patient was treated with diazoxide, which significantly alleviated the hypoglycemia. CT and MRI brain scanning at different developmental stages revealed large-scale brain damage in the front lobe. Severe neurodevelopment deficits were identified in the follow-up.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available