Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Abstract Background In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosomal recessive metabolic disease caused by PCK1 genetic defects. Previous...

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Bibliographic Details
Main Authors: Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Phosphoenolpyruvate Carboxykinase
Hypoglycemia
Encephalopathy
PCK1
Online Access:https://doi.org/10.1186/s13023-023-02946-5

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