title: Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.
abstract: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is considered as the second most common type of hereditary HI. Correlation of genotype and phenotype in HI/HA syndrome has been described in several studies. We present three Serbian patients with HI/HA syndrome with emphasis on a possible correlation between genotype and clinical manifestations. Patient 1 was heterozygous for a de novo mutation p.S445L in the GLUD1 gene, while patients 2 and 3 (son and mother) both carry the p.R221C mutation. Early onset of hypoglycaemia with generalized seizures was recorded in infancy in all three patients. The two male patients had mild developmental delay, while the female patient presented with epilepsy. Analysis of Serbian patients with HI/HA syndrome confirms the association of p.S445L and p.R221C mutations with hypoglycaemic seizures noted within the first three months of life and with subsequent risk for cognitive impairment and/or epilepsy.
authors.affiliation: Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Department of Metabolism and Clinical Genetics, Belgrade, Serbia E-mail: adrijans2004@yahoo.com.
authors.forename: Adrijan
authors.initials: A
authors.lastname: Sarajlija
authors.forename: Tatjana
authors.initials: T
authors.lastname: Milenkovic
authors.forename: Maja
authors.initials: M
authors.lastname: Djordjevic
authors.forename: Katarina
authors.initials: K
authors.lastname: Mitrovic
authors.forename: Sladjana
authors.initials: S
authors.lastname: Todorovic
authors.forename: Bozica
authors.initials: B
authors.lastname: Kecman
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D003072:Cognition Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005838:Genotype; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications / Q000235:genetics*; D007003:Hypoglycemia / Q000150:complications / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D055771:Serbia
chemical_list: D005969:Glutamate Dehydrogenase; C561840:GLUD1 protein, human