Work

P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1

Year: 2024

Type: article

Abstract: Cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency (MIM 261680) is an extremely rare inborn error of metabolism caused by biallelic pathogenic variants in PCK1, resulting in impaired decarboxylation of the TCA cycle intermediate oxaloacetate to the gluconeogenic precursor phosphoenolpyruvate. This leads to impaired hepatic gluconeogenesis via non-carbohydrate substrates, causing clinical episodes of recurrent hypoglycemia, lactic acidosis, encephalopathy, seizures, and hepatic dysfunction during catabolic stress.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.100912

Authors: Jeffrey Ehmsen, Nadav Weinstock, Shira Ziegler, Jacquelyn Britton, Tao Wang, Hilary Vernon

Institutions: Johns Hopkins University, Johns Hopkins Hospital

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200