Hereditary orotic aciduria

Hereditary Orotic Aciduria

Hereditary orotic aciduria (pronunciation: /hɪˌrɛdɪˈtɛri ɔːˈrɒtɪk æsɪˈdjʊəriə/) is a rare autosomal recessive disorder characterized by an inability of the body to convert orotic acid into uridine monophosphate (UMP). This condition is caused by a deficiency in the enzyme uridine monophosphate synthetase (UMPS).

Etymology

The term "orotic aciduria" is derived from "orotic acid", a compound that accumulates in the urine of individuals with this disorder, and "aciduria", a general term for the excretion of acid in urine. "Hereditary" refers to the genetic nature of the disorder.

Symptoms

Symptoms of hereditary orotic aciduria include failure to thrive, developmental delay, and megaloblastic anemia. In some cases, individuals may also present with crystalluria and orotic acid crystalluria.

Diagnosis

Diagnosis of hereditary orotic aciduria is typically made through a combination of clinical findings and laboratory testing, including the detection of elevated levels of orotic acid in the urine.

Treatment

Treatment for hereditary orotic aciduria typically involves dietary supplementation with uridine, which can bypass the metabolic block caused by the enzyme deficiency and reduce the accumulation of orotic acid.

Related Terms

• Autosomal recessive
• Orotic acid
• Uridine monophosphate
• Uridine monophosphate synthetase
• Uridine

See Also

• List of genetic disorders
• List of rare diseases

External links

• Medical encyclopedia article on Hereditary orotic aciduria
• Wikipedia's article - Hereditary orotic aciduria

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