Toxic multinodular goitre Toxic multinodular goitre Toxic multinodular goiter (also known as toxic nodular goiter, or Plummer's disease) is an active multinodular goiter associated with hyperthyroidism. It is a common cause of hyperthyroidism in which there is excess production of thyroid hormones from functionally autonomous thyroid nodules, which do not require stimulation from thyroid stimulating hormone (TSH). Toxic multinodular goiter is the second most common cause of hyperthyroidism (after Graves' disease) in the developed world, whereas iodine deficiency is the most common cause of hypothyroidism in developing-world countries where the population is iodine-deficient. (Decreased iodine leads to decreased thyroid hormone.) However, iodine deficiency
Acyl-CoA oxidase deficiency Acyl-CoA oxidase deficiency Acyl-CoA oxidase deficiency (ACOX1 deficiency) is a rare disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration). It is caused by pathogenic variants in "ACOX1", which codes for the production of an enzyme called peroxisomal straight-chain acyl-CoA oxidase (ACOX1). This specific enzyme is responsible for the breakdown of very long chain fatty acids (VLCFAs). Defective function of the ACOX1 enzyme prevents proper breakdown of these VLCFAs, leading to accumulation and interference with the nervous system. Acyl-CoA oxidase deficiency affects a person from birth, and most newborns affected with this condition will not survive