Phosphomannoisomerase deficiency

Phosphomannoisomerase Deficiency is a rare genetic disorder that affects the body's ability to process certain types of sugars. This condition is characterized by a deficiency in the enzyme phosphomannoisomerase, which plays a crucial role in the metabolism of mannose, a type of sugar.

Symptoms

The symptoms of Phosphomannoisomerase Deficiency can vary widely among affected individuals. Common symptoms include intellectual disability, developmental delay, seizures, and hearing loss. Some individuals may also have physical abnormalities, such as microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features.

Causes

Phosphomannoisomerase Deficiency is caused by mutations in the MPI gene, which provides instructions for making the enzyme phosphomannoisomerase. This enzyme is involved in the process of breaking down and using mannose. Mutations in the MPI gene disrupt the function of this enzyme, leading to the symptoms of Phosphomannoisomerase Deficiency.

Diagnosis

Diagnosis of Phosphomannoisomerase Deficiency is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include genetic testing, which can identify mutations in the MPI gene that cause the disorder.

Treatment

There is currently no cure for Phosphomannoisomerase Deficiency. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and other interventions to help manage symptoms and improve quality of life.

Prognosis

The prognosis for individuals with Phosphomannoisomerase Deficiency varies. Some individuals may have mild symptoms and a normal lifespan, while others may have severe symptoms and a shortened lifespan.

See Also

• Congenital disorder of glycosylation
• Mannose
• Genetic disorder
• Enzyme deficiency

NIH genetic and rare disease info

• NIH info on Phosphomannoisomerase deficiency

Phosphomannoisomerase deficiency is a rare disease.