Traduction de «GABA metabolic defect » (Anglais → Néerlandais) :

GABA metabolic defect
deficiëntie van succinylsemi-aldehydedehydrogenase

A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encep
hepato-encefalopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 1

Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilization induce accumulation of pyruvate and l
fatale infantiele lactaatacidose gelijktijdig met methylmalonacidurie