Cystathioninuria

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Cystathioninuria
L-Cystathionine
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, intellectual disability, seizures
Complications	N/A
Onset	Infancy or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the cystathionine gamma-lyase (CTH) gene
Risks	Consanguinity, family history
Diagnosis	Urine test for elevated cystathionine levels
Differential diagnosis	Homocystinuria, cystinuria, hyperhomocysteinemia
Prevention	N/A
Treatment	Dietary management, vitamin B6 supplementation
Medication	N/A
Prognosis	Variable, depending on severity and management
Frequency	Rare
Deaths	N/A

Autosomal Recessive Inheritance

Cystathioninuria is a rare metabolic disorder characterized by an excess of the amino acid cystathionine in the urine. This condition is generally considered benign, as affected individuals are typically asymptomatic and have normal life expectancy. However, some studies suggest that individuals with cystathioninuria may have an increased risk of developing neurological complications, such as intellectual disability and psychiatric disorders.

Causes

Cystathioninuria is caused by mutations in the CBS gene, which provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme plays a crucial role in the process of breaking down the amino acid methionine. Mutations in the CBS gene reduce the activity of cystathionine beta-synthase, leading to an accumulation of cystathionine in the body.

Symptoms

Most individuals with cystathioninuria do not show any symptoms. However, in rare cases, affected individuals may exhibit neurological complications, such as intellectual disability and psychiatric disorders. The relationship between these complications and cystathioninuria is not well understood.

Diagnosis

Cystathioninuria is diagnosed through a urine test that measures the levels of cystathionine. Genetic testing can also be used to identify mutations in the CBS gene.

Treatment

There is currently no specific treatment for cystathioninuria. Management of the condition typically involves regular monitoring of cystathionine levels and, in some cases, dietary modifications to limit the intake of methionine.

See also

• Amino acid disorder
• Metabolic disorder
• CBS gene
• Methionine

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