Goitre Goitre A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland. A goitre is associated with a thyroid that is not functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is from the Latin "gutturia", meaning throat. Most goitres are of a benign nature. A goitre, associated with hypothyroidism or hyperthyroidism, may be present with symptoms of the underlying disorder. For hyperthyroidism, the most common symptoms are associated with adrenergic stimulation: tachycardia (increased heart rate), palpitations, nervousness, tremor, increased blood pressure and heat intolerance. Clinical manifestations are often
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