Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

https://t.co/Lvrqh0zugB "hyperalaninemia, hyperketonemia, elevated ratio of lactate/pyruvate, increased plasma concentration of uric acid, glyceroluria and/or pseudo-hypertriglyceridemia."

https://t.co/Lvrqh0zugB "FBP1 deficiency leads to hypoglycaemia and lactic acidosis during catabolic episodes, induced by prolonged fasting during infections, high fever or excessive fructose consumption indicated by following lab findings:"

https://t.co/Lvrqh0zugB "FBP1 is important during gluconeogenesis in the liver and kidney by converting fructose-1,6-bisphosphate into fructose-6-phosphate."

https://t.co/Lvrqh0zugB "ACAD9 deficient patients present with hypertrophic cardiomyopathy, lactic acidosis, hyperglycemia and impaired muscle strength."