title: A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA).
abstract: 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.forename: Chen
authors.initials: C
authors.lastname: Fang
authors.forename: Xin
authors.initials: X
authors.lastname: Ding
authors.forename: Yun
authors.initials: Y
authors.lastname: Huang
authors.forename: Jian
authors.initials: J
authors.lastname: Huang
authors.forename: Pengjun
authors.initials: P
authors.lastname: Zhao
authors.forename: Ji
authors.initials: J
authors.lastname: Hu
mesh_terms: D000595:Amino Acid Sequence; D005260:Female; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006801:Humans; D006946:Hyperinsulinism / Q000151:congenital* / Q000235:genetics*; D007003:Hypoglycemia / Q000151:congenital* / Q000235:genetics*; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D017386:Sequence Homology, Amino Acid
chemical_list: D005969:Glutamate Dehydrogenase; C561840:GLUD1 protein, human