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Article

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.

Journal of clinical research in pediatric endocrinology - 5 Jun 2016

Sarajlija Adrijan, Milenkovic Tatjana, Djordjevic Maja, Mitrovic Katarina, Todorovic Sladjana, Kecman Bozica, Hussain Khalid

Abstract excerpt

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...

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Source

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Identifiers

PMID: 26759084
DOI: 10.4274/jcrpe.2436
PMCID: PMC5096481

Genes

GLUD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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