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
Pyruvate carboxylase deficiency Pyruvate carboxylase deficiency Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. Type A of the disease appears to be much more common in some Algonkian Indian tribes in eastern Canada, while the type B disease is more present in European populations. Mutations in the "PC" gene cause pyruvate carboxylase deficiency. The "PC" gene provides instructions for making an