Glutaric aciduria type II multiple Acyl-CoA dehydrogenation deficiencies

ABSTRACT

Glutaric Aciduria type II, is an inborn error of metabolism, autosomal recessive due to defects of mitochondrial electron transport chain from dehydrogenation reaction catalized by MCAD, SCAD, LCAD and VLCAD as well as Glutaryl-CoADehydrogenase. These deficiency produce illness in newborn period characterized by acidosis, hypoglycaemia, coma, hypotonia and cardiomyopathy Some affected neonates have had facial dysmophic features, polycystic kidneys