Disorders of ornithine metabolism Save
ICD-10 code: E72.4
Chapter: Endocrine, nutritional and metabolic diseases
Disorders of Ornithine Metabolism: Understanding the Basics
Ornithine is an amino acid that plays a vital role in several metabolic processes in the human body. It is involved in the production of urea, which is necessary for the elimination of ammonia from the body. Ornithine also plays a crucial role in the biosynthesis of polyamines, which are essential for cell growth and proliferation.
However, disorders of ornithine metabolism can cause a range of health problems. These disorders are caused by mutations in genes that are involved in the metabolism of ornithine, leading to a disruption of the normal metabolic processes in the body. Some of the most common disorders of ornithine metabolism include:
- Ornithine transcarbamylase deficiency (OTC)
- Citrullinemia
- Argininosuccinic aciduria (ASA)
- Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
OTC deficiency is the most common disorder of ornithine metabolism, affecting about 1 in 80,000 people. It is caused by a deficiency in the enzyme ornithine transcarbamylase, which plays a vital role in the urea cycle. This deficiency leads to a buildup of ammonia in the bloodstream, which can cause serious neurological problems and even death.
Citrullinemia and ASA are caused by mutations in genes that are involved in the biosynthesis of arginine, another amino acid that is closely related to ornithine. These disorders can cause a range of symptoms, including neurological problems, liver damage, and developmental delays.
HHH syndrome is a rare disorder of ornithine metabolism that is caused by a deficiency in the enzyme ornithine transporter. This deficiency leads to a buildup of ornithine in the bloodstream, which can cause a range of symptoms, including neurological problems, liver damage, and developmental delays.
Treatment for disorders of ornithine metabolism typically involves a combination of dietary changes and medication. In some cases, liver transplantation may be necessary to correct the underlying metabolic defect.
In conclusion, disorders of ornithine metabolism can have serious consequences for those affected. Understanding the basics of these disorders can help healthcare professionals diagnose and treat these conditions more effectively.