Open AccessEarly Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients
Author(s) -
Adrijan Sarajlija,
Tatjana Milenković,
Maja Djordjevic,
Katarina Mitrović,
Sladjana Todorović,
Bozica Kecman,
Khalid Hussain
Publication year - 2016
Publication title -
jcrpe
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.566
H-Index - 35
eISSN - 1308-5735
pISSN - 1308-5727
DOI - 10.4274/jcrpe.2436
Subject(s) - medicine , hyperammonemia , hyperinsulinism , epilepsy , pediatrics , congenital hyperinsulinism , genotype , gastroenterology , endocrinology , genetics , insulin , psychiatry , gene , insulin resistance , biology
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.