Formiminoglutamic aciduria (FIGLU) is a rare inherited disorder caused by a deficiency of the enzyme formiminotransferase cyclodeaminase (FTCD). This enzyme is involved in the metabolism of the amino acid histidine. People with FIGLU are unable to break down histidine, leading to a buildup of formiminoglutamic acid (FIGLU) in the body. Symptoms of FIGLU can include intellectual disability, seizures, and movement disorders. Treatment typically involves dietary management and supplementation with histidine.

The symptoms of Formiminoglutamic aciduria can vary from person to person, but may include:

-Developmental delay
-Seizures
-Intellectual disability
-Growth retardation
-Feeding difficulties
-Hypotonia
-Behavioral problems
-Speech delay
-Movement disorders
-Gastrointestinal problems
-Kidney problems
-Hearing loss
-Vision problems
-Skin rashes

Formiminoglutamic aciduria is a rare inherited disorder caused by a deficiency of the enzyme formiminotransferase cyclodeaminase. This enzyme is responsible for breaking down the amino acid formiminoglutamic acid (FIGLU). Without this enzyme, FIGLU builds up in the body, leading to the symptoms of formiminoglutamic aciduria. The disorder is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but usually do not show signs and symptoms of the condition.

Formiminoglutamic aciduria is a rare metabolic disorder that is caused by a deficiency of the enzyme formiminotransferase cyclodeaminase. Treatment for this disorder is largely supportive and includes dietary management, vitamin supplementation, and physical therapy. Dietary management typically involves avoiding foods that are high in histidine, such as fish, eggs, and dairy products. Vitamin supplementation may include folate, thiamine, and pyridoxine. Physical therapy may be recommended to help improve muscle strength and coordination. In some cases, medications such as 5-formyltetrahydrofolate may be prescribed to help reduce the levels of formiminoglutamic acid in the body.

1. Genetic mutations in the FPGS gene
2. Consanguinity
3. Advanced maternal age
4. Exposure to certain medications or toxins
5. Low birth weight
6. Premature birth
7. Low folate levels in the mother during pregnancy

At this time, there is no known cure for Formiminoglutamic aciduria. However, there are medications that can help manage the symptoms of the condition. These medications include folinic acid, biotin, and carnitine. Additionally, dietary modifications may be recommended to help manage the symptoms.