Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome, previously known as cretinism, is a condition of severely stunted physical and mental growth owing to untreated congenital deficiency of thyroid hormone (congenital hypothyroidism) usually owing to maternal hypothyroidism. Around the world, the most common cause of congenital hypothyroidism is iodine deficiency. It has affected many people worldwide and continues to be a major public health problem in many countries. Iodine is an essential trace element, necessary primarily for the synthesis of thyroid hormones. Iodine deficiency is the most common preventable cause of brain damage worldwide. Although iodine is found in many
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