Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular isoforms of phosphoenolpyruvate carboxykinase (PCK): cytosolic PCK (encoded by PCK1) and mitochondrial PCK (encoded by PCK2). Mutations in PCK1 have been detected in affected individuals.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H02520 Phosphoenolpyruvate carboxykinase deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06031 Citrate cycle and pyruvate metabolism
H02520 Phosphoenolpyruvate carboxykinase deficiency
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA
Title
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
