Cytosolic PEPCK deficiency: Expanding the clinical phenotype and novel laboratory findings.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12446
Abstract: Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study 21 children and three adult… read more here.
Keywords: phenotype; hypoglycemia; novel laboratory; deficiency ... See more keywords
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-00823-8
Abstract: Cytosolic PEPCK deficiency (PCKDC) is a rare autosomal recessive inborn error of metabolism, which can present with hypoglycemia, lactic acidosis, and liver failure. It is caused by biallelic pathogenic variants in the PCK1 gene. Only… read more here.
Keywords: pck1 gene; cytosolic pepck; variants pck1; failure ... See more keywords