title: Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.
abstract: Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH). Patients present with recurrent symptomatic postprandial hypoglycemia following protein-rich meals (leucine-sensitive hypoglycemia) as well as fasting hypoglycemia accompanied by asymptomatic elevations of plasma ammonia. In contrast to other forms of CHI, the phenotype is reported to be milder thus escaping recognition for the first few months of life. Early diagnosis and appropriate management are essential to avoid the neurodevelopmental consequences including epilepsy and learning disabilities which are prevalent in this disorder. We report an infant presenting with afebrile seizures secondary to hyperinsulinemic hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene.
authors.affiliation: Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpar, Malaysia. saras329@hotmail.com
authors.forename: Shanti
authors.initials: S
authors.lastname: Balasubramaniam
authors.forename: Ritika
authors.initials: R
authors.lastname: Kapoor
authors.forename: Janet Hua Hong
authors.initials: JH
authors.lastname: Yeow
authors.forename: Poi Geok
authors.initials: PG
authors.lastname: Lim
authors.forename: Sarah
authors.initials: S
authors.lastname: Flanagan
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D000641:Ammonia / Q000097:blood; D001786:Blood Glucose / Q000032:analysis; D057210:Delayed Diagnosis; D005260:Female; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006801:Humans; D006946:Hyperinsulinism / Q000097:blood / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D007003:Hypoglycemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D009154:Mutation; D012640:Seizures / Q000209:etiology
chemical_list: D001786:Blood Glucose; D000641:Ammonia; D005969:Glutamate Dehydrogenase; C561840:GLUD1 protein, human