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Article

A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.

Journal of medical case reports - 2 Feb 2016

Odom John, Gieron-Korthals Maria, Shulman Dorothy, Newkirk Patricia, Prijoles Eloise, Sanchez-Valle Amarilis

Abstract excerpt

BACKGROUND: Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to control with typical medical therapy. To the best of our knowledge, neither our patient's mutation, nor a case of hyperinsulinism-hyperammonemia presenting with dysmorphic features and intrauterine growth...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Growth Retardation

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Share to Oligonucleotide Array Sequence Analysis

Source

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Identifiers

PMID: 26839063
DOI: 10.1186/s13256-016-0811-0
PMCID: PMC4738771

Genes

GLUD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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