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Article

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

European journal of pediatrics - 1 Dec 2009

Faiyaz-Ul-Haque Muhammad, Al-Owain Mohammed, Al-Dayel Fouad, Al-Hassnan Zuhair, Al-Zaidan Hamad, Rahbeeni Zuhair, Al-Sayed Moeen, Balobaid Ameera, Cluntun Ahmad, Toulimat Mohamed, Abalkhail Hala, Peltekova Iskra, Zaidi Syed H E

Abstract excerpt

UNLABELLED: Deficiency of fructose-1,6-bisphosphatase (FBP) results in impaired gluconeogenesis, which is characterized by episodes of hyperventilation, apnea, hypoglycemia, and metabolic and lactic acidosis. This autosomal recessive disorder is caused by mutations in the FBP1 gene, which encodes...

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Source

Identifiers

PMID: 19259699
DOI: 10.1007/s00431-009-0953-9

Genes

FBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19259699-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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