Orotidylic decarboxylase deficiency

Orotidylic Decarboxylase Deficiency is a rare metabolic disorder characterized by a deficiency in the enzyme orotidylic decarboxylase. This enzyme plays a crucial role in the pyrimidine synthesis pathway, which is essential for the production of the nucleotides uridine monophosphate (UMP) and cytidine monophosphate (CMP). These nucleotides are vital components of RNA and DNA, necessary for cell growth and replication. The deficiency leads to an accumulation of orotic acid in the body, resulting in a condition known as orotic aciduria.

Symptoms and Diagnosis

The clinical presentation of Orotidylic Decarboxylase Deficiency can vary widely among affected individuals. Common symptoms include failure to thrive, developmental delay, anemia, and urinary excretion of large amounts of orotic acid. Diagnosis is typically made through biochemical analysis, including urine tests that detect elevated levels of orotic acid, and genetic testing to identify mutations in the gene responsible for the enzyme's production.

Genetics

Orotidylic Decarboxylase Deficiency is inherited in an autosomal recessive manner. This means that the condition occurs when an individual inherits two copies of the mutated gene, one from each parent. Parents of an affected child are carriers of the disease but usually do not show symptoms themselves.

Treatment

Treatment for Orotidylic Decarboxylase Deficiency primarily focuses on dietary management to reduce orotic acid levels and supplementation with uridine to bypass the metabolic block caused by the enzyme deficiency. Early diagnosis and treatment are crucial for preventing or minimizing developmental delays and other complications.

Prognosis

The prognosis for individuals with Orotidylic Decarboxylase Deficiency varies depending on the severity of the condition and the timeliness of diagnosis and treatment. With appropriate management, many affected individuals can lead normal, healthy lives.

Orotidylic decarboxylase deficiency Resources
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