Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake
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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