Anemia is a common disorder that affects the blood’s ability to carry oxygen. It can be caused by various genetic conditions, such as glucose-6-phosphate dehydrogenase deficiency, which affects the red blood cells’ ability to break down glucose for energy. Another genetic condition, hemochromatosis, leads to the excessive accumulation of iron in the body, causing damage to organs and tissues.
Pigmented deposits can also be a sign of genetic conditions. For example, in Gilbert syndrome, there is a buildup of bilirubin, a yellow pigment, in the blood. This leads to mild jaundice, where the skin and eyes take on a yellowish tint. In pseudoxanthoma elasticum, a rare genetic disorder, there is abnormal mineralization of elastic fibers, leading to the formation of yellowish papules on the skin.
Progressive glycine encephalopathy is a genetic disorder that affects the breakdown of the amino acid glycine in the brain. This leads to seizures, developmental delay, and progressive brain degeneration. Another genetic disorder that affects brain function is GM2-gangliosidosis, which causes progressive muscle weakness, developmental regression, and other neurological symptoms.
Gastrointestinal disorders can also have a genetic component. Seegalactosemia is a disorder in which the body is unable to break down galactose, a sugar found in milk. This leads to gastrointestinal symptoms such as diarrhea and vomiting. Glucose-6-phosphate transporter deficiency is another genetic disorder that affects the transport of glucose-6-phosphate, leading to severe metabolic disturbances.