TY - CHAP M1 - Book, Section TI - Chapter 156. Disorders of Pentose Phosphate Pathway A1 - Kishnani, Priya S. A1 - Chen, Yuan-Tsong A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. Y1 - 2011 N1 - T2 - Rudolph's Pediatrics, 22e AB - PEPCK is a key enzyme in gluconeogenesis. It catalyzes the conversion of oxaloacetate to phosphoenolpyruvate. PEPCK deficiency has been described both as a mitochondrial (OMIM 261650) and as a cytosolic (OMIM 261680) enzyme deficiency, encoded by two distinct genes. The disease has been reported in only a few cases all are questionable, with no molecular confirmation. The clinical features are heterogeneous, with hypoglycemia, lactic acidemia, hepatomegaly, hypotonia, developmental delay, and failure to thrive as the major manifestations. Hepatic and renal dysfunction may be present. The diagnosis is based on the reduced activity of PEPCK in liver, fibroblasts, or lymphocytes. Fibroblasts and lymphocytes are not suitable for diagnosing the cytosolic form of PEPCK deficiency, because these tissues possess only mitochondrial PEPCK. To avoid hypoglycemia, patients should be treated with slow-release carbohydrates such as cornstarch, and fasting should be avoided. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=6726312 ER -