Orotic aciduria

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Orotic aciduria
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Megaloblastic anemia, failure to thrive, developmental delay
Complications	Growth retardation, intellectual disability
Onset	Infancy
Duration	Chronic
Types	Type I, Type II
Causes	Genetic mutation in the UMPS gene
Risks	Consanguinity
Diagnosis	Urine test for elevated orotic acid, genetic testing
Differential diagnosis	Hereditary orotic aciduria, ornithine transcarbamylase deficiency
Prevention	Genetic counseling
Treatment	Uridine monophosphate supplementation
Medication	Uridine
Prognosis	Good with treatment
Frequency	Rare
Deaths	N/A

Diagram of autosomal recessive inheritance

Orotic Aciduria is a rare metabolic disorder characterized by an excess of orotic acid in the urine. It is often associated with megaloblastic anemia and mental and physical retardation. The disorder is inherited in an autosomal recessive manner.

Symptoms

The symptoms of Orotic Aciduria can vary greatly from person to person. However, some common symptoms include:

• Megaloblastic anemia
• Mental retardation
• Physical retardation
• Failure to thrive
• Developmental delay

Causes

Orotic Aciduria is caused by a deficiency in the enzyme orotate phosphoribosyltransferase and orotidine 5'-phosphate decarboxylase. These enzymes are involved in the synthesis of pyrimidine, a component of DNA and RNA.

Diagnosis

The diagnosis of Orotic Aciduria is typically made through a urine test, which will show elevated levels of orotic acid. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for Orotic Aciduria typically involves dietary supplementation with uridine, which can help to reduce the levels of orotic acid in the body.

Prognosis

The prognosis for individuals with Orotic Aciduria can vary greatly depending on the severity of the disorder and the individual's response to treatment. However, with early diagnosis and treatment, many individuals with Orotic Aciduria can lead relatively normal lives.

See Also

• Metabolic disorders
• Genetic disorders
• Inborn errors of metabolism