Alkyldihydroxyacetonephosphate synthase deficiency

= = Alkyldihydroxyacetonephosphate Synthase Deficiency == Alkyldihydroxyacetonephosphate (alkyl-DHAP) synthase deficiency is a rare genetic disorder that affects the biosynthesis of ether lipids, which are essential components of cell membranes. This condition is characterized by a deficiency in the enzyme alkyl-DHAP synthase, leading to a variety of clinical manifestations.

Pathophysiology

Alkyl-DHAP synthase is an enzyme involved in the ether lipid biosynthesis pathway. It catalyzes the formation of alkyl-DHAP from acyl-DHAP, a crucial step in the production of plasmalogens and other ether lipids. These lipids are important for the normal function of cell membranes, particularly in the nervous system and the heart. In individuals with alkyl-DHAP synthase deficiency, the lack of functional enzyme leads to reduced levels of ether lipids, which can disrupt cellular functions and lead to the symptoms associated with the disorder.

Clinical Features

The clinical presentation of alkyl-DHAP synthase deficiency can vary widely among affected individuals. Common symptoms include:

• Developmental delay
• Neurological abnormalities
• Seizures
• Hypotonia (reduced muscle tone)
• Growth retardation

The severity of symptoms can range from mild to severe, and some individuals may experience additional complications such as cardiomyopathy or hearing loss.

Diagnosis

Diagnosis of alkyl-DHAP synthase deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may reveal reduced levels of plasmalogens in blood or tissue samples. Genetic testing can confirm mutations in the gene encoding alkyl-DHAP synthase.

Treatment

Currently, there is no cure for alkyl-DHAP synthase deficiency. Treatment is primarily supportive and symptomatic, focusing on managing the specific symptoms experienced by the individual. This may include physical therapy, occupational therapy, and medications to control seizures.

Research and Future Directions

Research into alkyl-DHAP synthase deficiency is ongoing, with efforts to better understand the disease mechanism and develop potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.

See Also

• Ether lipid biosynthesis
• Plasmalogen
• Peroxisomal disorders

NIH genetic and rare disease info

• NIH info on Alkyldihydroxyacetonephosphate synthase deficiency

Alkyldihydroxyacetonephosphate synthase deficiency is a rare disease.