Serine biosynthesis pathway deficiency, infantile/juvenile form is a rare genetic disorder caused by a deficiency in the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH). This enzyme is responsible for the production of serine, an amino acid that is essential for normal growth and development. Without enough serine, the body cannot produce enough proteins, leading to a variety of symptoms including poor growth, intellectual disability, seizures, and movement disorders. Treatment typically involves dietary supplementation with serine and other amino acids.

The symptoms of Serine biosynthesis pathway deficiency, infantile/juvenile form, include:

-Developmental delay
-Seizures
-Feeding difficulties
-Growth retardation
-Hypotonia
-Lethargy
-Hyperammonemia
-Hyperglycinemia
-Hyperlactatemia
-Hyperalaninemia
-Hypermethioninemia
-Hyperornithinemia
-Hypercitrullinemia
-Hyperlysinemia
-Hyperprolinemia
-Hyperthreoninemia
-Hypoglycemia
-Hypocalcemia
-Hypophosphatemia
-Hypoketotic hypoglycemia
-Elevated liver enzymes
-Elevated serum ammonia
-Elevated serum lactate
-E

1. Mutations in the SERA2 gene: This gene provides instructions for making an enzyme called serine racemase, which is involved in the biosynthesis of serine. Mutations in this gene can lead to a deficiency in the biosynthesis of serine.

2. Mutations in the PSAT1 gene: This gene provides instructions for making an enzyme called phosphoserine aminotransferase, which is involved in the biosynthesis of serine. Mutations in this gene can lead to a deficiency in the biosynthesis of serine.

3. Mutations in the AGXT gene: This gene provides instructions for making an enzyme called alanine-glyoxylate aminotransferase, which is involved in the biosynthesis of serine. Mutations in this gene can lead to a deficiency in

1. Dietary modifications: Dietary modifications are the primary treatment for serine biosynthesis pathway deficiency, infantile/juvenile form. This includes a low-protein diet and supplementation with serine, glycine, and other amino acids.

2. Medications: Medications such as L-serine, L-glycine, and L-threonine may be prescribed to help manage symptoms.

3. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme in the serine biosynthesis pathway.

4. Gene therapy: Gene therapy may be used to correct the genetic defect that causes the deficiency.

5. Nutritional support: Nutritional support may be necessary to ensure adequate nutrition and growth.

1. Genetic mutations in the SERA gene, which is responsible for the production of serine biosynthesis enzymes.

2. Mutations in the PHGDH gene, which is responsible for the production of the enzyme phosphoglycerate dehydrogenase.

3. Mutations in the PSAT1 gene, which is responsible for the production of the enzyme phosphoserine aminotransferase.

4. Mutations in the PSPH gene, which is responsible for the production of the enzyme phosphoserine phosphatase.

5. Mutations in the SHMT1 gene, which is responsible for the production of the enzyme serine hydroxymethyltransferase.

6. Mutations in the SHMT2 gene, which is responsible for the production of the enzyme serine hydroxymethyltransferase

At this time, there is no known cure for Serine biosynthesis pathway deficiency, infantile/juvenile form. However, there are medications that can help manage the symptoms of this condition. These medications include anticonvulsants, anti-inflammatory drugs, and medications to help with muscle spasms. Additionally, dietary modifications may be recommended to help manage the symptoms.