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
Aminolevulinic acid dehydratase deficiency porphyria Aminolevulinic acid dehydratase deficiency porphyria Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", and "plumboporphyria") is a neuropsychiatric condition, disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent porphyria. The condition is extremely rare, with fewer than 10 cases ever reported. ALA dehydratase deficiency is a rare cause of hepatic porphyria. It is an autosomal recessive disorder that results from inappropriately low levels of the enzyme ALA dehydratase (ALAD, also called porphobilinogen synthase), which is required for normal heme synthesis. ALA dehydratase deficiency is inherited