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Journals / Journal of Clinical Research in Pediatric Endocrinology / 2016 / Cilt: 8 - Sayı: 2

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients

Adrijan SARAJLİJA
Tatjana MİLENKOVİC
Maja DJORDJEVİC
Katarina MİTROVİC
Sladjana TODOROVİC
Bozica KECMAN
Khalid HUSSAIN
Pages
228–231
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis:Hyperinsulinism/hyperammonemia (HI/HA) syndrome is considered as the second most common type of hereditary HI.
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Key Findings & Data: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.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

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Cite This Article

SARAJLİJA, A., MİLENKOVİC, T., DJORDJEVİC, M., MİTROVİC, K., TODOROVİC, S., KECMAN, B., HUSSAIN, K. (2016). Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 8 - Sayı: 2, 228–231. https://ajindex.com/articles/270506

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