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
Mitochondrial trifunctional protein deficiency mitochondrial trifunctional protein deficiency that may begin "after" infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities called peripheral neuropathy. Some who have MTP deficiency show a progressive course associated with myopathy, and recurrent rhabdomyolysis. The genetics of mitochondrial trifunctional protein deficiency is based on mutations in the HADHA and HADHB genes which cause this disorder. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells: mitochondrial trifunctional protein contains three enzymes that each