Hammen-Rich Syndrome

Himanna-Rich syndrome.

Acquired Diffuse Hypophosphatemia syndrome, also known as Himanu-Rich syndrome, is a genetic disorder that affects the body's phosphate metabolism. With this syndrome, the concentration of phosphate ions is significantly reduced, which leads to a lot of negative consequences for the body. The first symptoms usually appear in childhood, but many children are not correctly diagnosed and the disease remains unrecognized for many years, often leading to serious complications in the kidneys. Now doctors can identify this metabolic abnormality at the earliest stages, which means that treatment can even lead to a complete recovery of a small patient.

Hammen-Rich syndrome (HRS) is a rare genetic disorder characterized by metabolic disorders, elevated cholesterol, arterial calcification, and brain abnormalities. The disease is associated with a mutation in the LDLR gene, which encodes receptors for low-density lipoproteins (LDL), which transport cholesterol from the blood to tissues.

Symptoms of HRS begin in early childhood and may include mental confusion, difficulty speaking and moving, vision and hearing problems, and seizures and seizures.