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Article

A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA).

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2016

Fang Chen, Ding Xin, Huang Yun, Huang Jian, Zhao Pengjun, Hu Ji

Abstract excerpt

Hyperinsulinism-hyperammonemia (HI/HA) syndrome, often characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia, is the second most frequent cause of the congenital hyperinsulinism (CHI). Here, we reported a patient with normal birth weight, repeated seizures, untreatable hypoglycemia, and persistent, mild hyperammonemia. The genetic diagnosis revealed that the patient carried a...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Share to Sequence Homology, Amino Acid

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Identifiers

PMID: 26656609
DOI: 10.1515/jpem-2015-0276

Genes

GLUD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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