However, in rare diseases such as primary hyperoxaluria type I (AGT), CBS-deficient homocystinuria (CBS), congenital erythropoietic porphyria (UROS), galactosemias (GALT, GALE), transthyretin amyloidosis (TTR), phenylkenoturia (PAH), and ACADM (acyl-CoA dehydrogenase medium chain) or ACC (acetyl CoA carboxylase) deficiency (ACADM/ACC1), the number of sites investigated by site-specific methods drops to ~5% on average. Here, ACADM is linked to Familial transthyretin-related amyloidosis.