Orotic aciduria

Orotic Aciduria

Orotic aciduria (pronounced o-ro-tik as-id-u-ri-a) is a rare metabolic disorder characterized by an excess of orotic acid in the urine. It is also known as oroticaciduria or OA.

Etymology

The term "orotic aciduria" is derived from the words "orotic acid", a compound involved in the metabolic process, and "uria", a term used in medicine to denote the presence of a substance in the urine.

Definition

Orotic aciduria is a disorder that occurs when the body is unable to properly metabolize orotic acid, leading to its accumulation and subsequent excretion in the urine. This condition is typically diagnosed in infancy and can lead to growth retardation, developmental delay, and other health complications if left untreated.

Types

There are two types of orotic aciduria: Type I Orotic Aciduria and Type II Orotic Aciduria. Type I is caused by a deficiency in the enzyme orotate phosphoribosyltransferase, while Type II is caused by a deficiency in the enzyme orotidine 5'-phosphate decarboxylase.

Symptoms

Symptoms of orotic aciduria can vary but often include failure to thrive, developmental delay, and megaloblastic anemia. In severe cases, patients may also exhibit physical abnormalities and neurological complications.

Treatment

Treatment for orotic aciduria typically involves dietary modifications and supplementation with certain vitamins and minerals. In some cases, bone marrow transplantation may be considered.

Related Terms

• Metabolic Disorder
• Orotic Acid
• Urea Cycle
• Megaloblastic Anemia
• Bone Marrow Transplantation

External links

• Medical encyclopedia article on Orotic aciduria
• Wikipedia's article - Orotic aciduria

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