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Early presentation of Hyperinsulinism/hyperammonemia syndrome in three Serbian patients
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نویسنده
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sarajlija a. ,milenkovic t. ,djordjevic m. ,mitrovic k. ,todorovic s. ,kecman b. ,hussain k.
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منبع
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journal of clinical research in pediatric endocrinology - 2016 - دوره : 8 - شماره : 2 - صفحه:228 -231
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چکیده
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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. © journal of clinical research in pediatric endocrinology,published by galenos publishing.
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کلیدواژه
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Genotype; Hyperinsulinism/hyperammonemia syndrome; Phenotype
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آدرس
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mother and child health care institute of serbia ‘dr vukan cupic’,department of metabolism and clinical genetics,belgrade,serbia,university of belgrade faculty of medicine,belgrade, Serbia, mother and child health care institute of serbia ‘dr vukan cupic’,department of endocrinology,belgrade, Serbia, mother and child health care institute of serbia ‘dr vukan cupic’,department of metabolism and clinical genetics,belgrade,serbia,university of belgrade faculty of medicine,belgrade, Serbia, mother and child health care institute of serbia ‘dr vukan cupic’,department of endocrinology,belgrade, Serbia, mother and child health care institute of serbia ‘dr vukan cupic’,department of endocrinology,belgrade, Serbia, mother and child health care institute of serbia ‘dr vukan cupic’,department of metabolism and clinical genetics,belgrade, Serbia, great ormond street hospital for children nhs trust,department of pediatric endocrinology,london,united kingdom,university college london,institute of child health,london, United Kingdom
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Authors
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