AGPS deficiency

AGPS Deficiency AGPS deficiency, also known as Alkylglycerone phosphate synthase deficiency, is a rare genetic disorder that affects the biosynthesis of plasmalogens, a type of ether phospholipids that are essential components of cell membranes, particularly in the nervous system, heart, and immune cells.

Overview

AGPS deficiency is caused by mutations in the AGPS gene, which encodes the enzyme alkylglycerone phosphate synthase. This enzyme is crucial in the biosynthetic pathway of plasmalogens. Plasmalogens play a significant role in membrane structure and function, and their deficiency can lead to a variety of clinical manifestations.

Clinical Features

Patients with AGPS deficiency may present with a range of symptoms, including:

• Neurological abnormalities such as developmental delay, intellectual disability, and seizures.
• Skeletal abnormalities.
• Visual and auditory impairments.
• Respiratory issues.

The severity of symptoms can vary widely among affected individuals.

Pathophysiology

The pathophysiology of AGPS deficiency involves the disruption of plasmalogen synthesis. Plasmalogens are involved in:

• Membrane fusion and ion transport.
• Antioxidant protection.
• Signal transduction.

The lack of plasmalogens affects the function of cells, particularly in the nervous system, leading to the neurological symptoms observed in patients.

Diagnosis

Diagnosis of AGPS deficiency is based on:

• Clinical evaluation of symptoms.
• Biochemical tests showing reduced levels of plasmalogens in blood or tissue samples.
• Genetic testing to identify mutations in the AGPS gene.

Treatment

Currently, there is no cure for AGPS deficiency. Treatment is symptomatic and supportive, focusing on managing the symptoms and improving the quality of life for affected individuals. This may include:

• Physical therapy and occupational therapy.
• Anticonvulsant medications for seizure control.
• Nutritional support.

Research and Future Directions

Research is ongoing to better understand the molecular mechanisms of AGPS deficiency and to develop potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.

See Also

• Plasmalogen
• Peroxisomal disorders
• Genetic testing

NIH genetic and rare disease info

• NIH info on AGPS deficiency

AGPS deficiency is a rare disease.