Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differe  Read More

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardatio  Read More

Normal liver function tests, high bilirubin levels, and genetic testing are all necessary for the diagnosis of unconjugated benign bilirubinemia to confirm the condition. The use of drugs to treat this syndrome is not justified because of how benign and unimportant it is. When using medications that are conjugated by the liver, such as acetaminophen and irinotecan, there is an increased risk of side effects and tox  Read More