Phenol sulfur transferase deficiency

Phenol Sulfur Transferase Deficiency

Diagram illustrating the reaction catalyzed by phenol sulfur transferase.

Phenol sulfur transferase deficiency is a metabolic disorder characterized by a reduced ability to metabolize phenolic compounds due to insufficient activity of the enzyme phenol sulfur transferase (PST). This enzyme is crucial for the detoxification of phenolic compounds, which are found in various foods, drugs, and environmental chemicals.

Enzyme Function

Phenol sulfur transferase is an enzyme that catalyzes the transfer of a sulfuryl group from a donor molecule, such as 3'-phosphoadenosine-5'-phosphosulfate (PAPS), to a phenolic substrate. This reaction is a part of the sulfation pathway, which is important for the metabolism and excretion of phenolic compounds. The enzyme is found in the liver, intestines, and other tissues, where it helps to convert potentially harmful phenols into more water-soluble sulfate esters that can be excreted in the urine.

Genetic Basis

Illustration of a mutation affecting the PST gene.

Phenol sulfur transferase deficiency is often linked to genetic mutations that affect the PST gene. These mutations can lead to reduced enzyme activity or stability, resulting in an accumulation of phenolic compounds in the body. The condition can be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene to exhibit symptoms.

Symptoms and Diagnosis

Individuals with phenol sulfur transferase deficiency may experience a range of symptoms due to the accumulation of phenolic compounds. These symptoms can include behavioral issues, skin rashes, headaches, and gastrointestinal disturbances. Diagnosis is typically based on clinical symptoms, family history, and laboratory tests that measure PST activity in the blood or tissues.

Management and Treatment

Management of phenol sulfur transferase deficiency involves dietary modifications to reduce the intake of phenolic compounds. This may include avoiding certain foods, such as those high in salicylates and artificial additives. In some cases, supplementation with sulfur-containing compounds, such as Epsom salts (magnesium sulfate), may be recommended to support the sulfation pathway.

Related Pages

• Metabolic disorder
• Sulfation
• Enzyme deficiency
• Genetic mutation