Article
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency.
Molecular genetics and metabolism - 1 Jan 2000
Goetz M, Schröter J, Dattner T, Brennenstuhl H, Lenz D, Opladen T, Hörster F, Okun J G, Hoffmann G F, Kölker S, Staufner C
Abstract excerpt
OBJECTIVES: Pathogenic biallelic variants in PCK1 coding for the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) cause PEPCK-C deficiency, a rare disorder of gluconeogenesis presenting with hypoglycemia, lactic acidosis, and hepatopathy. To date, there has been no systematic analysis of its phenotypic, biochemical, and genetic spectrum. METHODS: All currently published individuals and a novel patient with...
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