Pseudoaminopterin syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the enzyme dihydrofolate reductase (DHFR). This enzyme is responsible for converting folic acid into its active form, tetrahydrofolate. People with this disorder have a deficiency of this enzyme, which leads to a buildup of folic acid in the body and a variety of symptoms, including intellectual disability, seizures, and growth delays.

The symptoms of Pseudoaminopterin syndrome include:

-Developmental delay
-Intellectual disability
-Seizures
-Growth retardation
-Feeding difficulties
-Hearing loss
-Vision problems
-Abnormal facial features
-Abnormalities of the hands and feet
-Abnormalities of the heart, kidneys, and other organs
-Behavioral problems
-Sleep disturbances

Pseudoaminopterin syndrome is caused by mutations in the gene that codes for the enzyme dihydrofolate reductase (DHFR). This enzyme is responsible for converting dihydrofolate to tetrahydrofolate, which is an important cofactor in the synthesis of purines and thymidylate. Mutations in the DHFR gene can lead to a deficiency in the enzyme, resulting in an accumulation of dihydrofolate and a decrease in the production of tetrahydrofolate. This can lead to a variety of symptoms, including developmental delays, seizures, and intellectual disability.

The primary treatment for Pseudoaminopterin syndrome is to reduce the amount of folate in the diet. This can be done by avoiding foods that are high in folate, such as leafy green vegetables, legumes, and fortified cereals. Additionally, medications such as methotrexate and leucovorin can be used to reduce the amount of folate in the body. Other treatments may include physical therapy, occupational therapy, speech therapy, and nutritional support.

1. Maternal exposure to aminopterin or methotrexate during pregnancy
2. Inherited genetic mutations in the MTHFR gene
3. Exposure to environmental toxins
4. Low folate levels in the mother during pregnancy
5. Low birth weight
6. Premature birth
7. Low socioeconomic status
8. Poor nutrition

At this time, there is no known cure for Pseudoaminopterin syndrome. However, there are medications that can help manage the symptoms of the condition. These include anticonvulsants, muscle relaxants, and medications to help with sleep. Additionally, physical and occupational therapy can help improve mobility and quality of life.