Cystathioninuria

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Cystathioninuria

Cystathioninuria (pronounced sis-tuh-thigh-oh-nin-yur-ee-uh) is a rare metabolic disorder characterized by an excess of the amino acid cystathionine in the urine.

Etymology

The term "Cystathioninuria" is derived from the words "cystathionine," which is an amino acid, and "uria," a suffix used in medical terminology to denote a condition of the urine.

Definition

Cystathioninuria is a condition that results from a defect in the metabolic pathway of the amino acid methionine, leading to an accumulation of cystathionine in the urine. This condition is typically diagnosed through a urine test that detects elevated levels of cystathionine.

Symptoms

The symptoms of Cystathioninuria can vary greatly from person to person. Some individuals may be asymptomatic, while others may experience symptoms such as fatigue, developmental delay, and learning difficulties.

Causes

Cystathioninuria is caused by a deficiency in the enzyme Cystathionine Beta-Synthase, which is responsible for the conversion of homocysteine to cystathionine in the body. This deficiency can be due to genetic mutations in the CBS gene.

Treatment

Treatment for Cystathioninuria typically involves dietary modifications to limit the intake of methionine. In some cases, vitamin B6 supplementation may also be recommended.

Related Terms

External links

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