Scurvy -gulonolactone oxidase (GULO) enzyme, which is required in the last step of vitamin C synthesis. The genomes of these species contain GULO as pseudogenes, which serve as insight into the evolutionary past of the species. In babies, scurvy is sometimes referred to as Barlow's disease, named after Thomas Barlow, a British physician who described it in 1883. However, Barlow's disease or Barlow's syndrome may also refer to mitral valve prolapse, first described by John Brereton Barlow in 1966. Scurvy Scurvy is a disease resulting from a lack of vitamin C (ascorbic acid). Early symptoms include weakness, feeling tired, and sore
Holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. Symptoms are very similar to biotinidase deficiency and treatment – large doses of biotin – is also the same. Mutations in the "HLCS" gene cause holocarboxylase synthetase deficiency. The "HLCS" gene makes an enzyme, holocarboxylase synthetase, that attaches biotin to other molecules. Biotin, a B vitamin, is found in foods such as liver,