E72.4: Disorders of ornithine metabolism

Nitrogenous substances accumulate in the body. They are broken down to urea and then excreted via the urine. The amino acid ornithine is involved in breaking down these substances. There are various disorders that involve an inability to process ornithine properly. Depending on the disorder, there can be various symptoms.

With one form of the disorder, your vision can be badly impaired. This can result in short-sightedness or night blindness, for example. Short-sightedness is when your distance vision is not as clear as it should be. With night blindness, you have difficulties seeing well in the dark. Over time, your vision can get worse and worse. Your vision may then be narrowed, like in a sort of tunnel. You may also get blinder. A muscle weakness can also occur. This mainly affects the muscles in the shoulder area and the pelvis.

With other forms of the disorder, the first indications appear shortly after birth. The child may then be groggy or pass out. Its breathing may also be very rapid. The child may also have a weak suck, seizures and vomiting. The child’s mental faculties may also not develop properly. Depending on the form of the disorder, there can be other symptoms.

The disease is hereditary. Other family members may also be affected.