Pyruvate carboxylase deficiency, infantile type is a rare inherited metabolic disorder caused by a deficiency of the enzyme pyruvate carboxylase. This enzyme is involved in the metabolism of carbohydrates and fatty acids. Symptoms of this disorder typically appear in infancy and include poor feeding, vomiting, seizures, and developmental delay. If left untreated, the disorder can lead to severe neurological damage and death. Treatment typically involves a combination of dietary modifications, medications, and supplements.

The symptoms of Pyruvate carboxylase deficiency, infantile type, include:

-Poor feeding
-Vomiting
-Lethargy
-Seizures
-Developmental delay
-Hypoglycemia
-Hyperammonemia
-Lactic acidosis
-Ketosis
-Hypoketotic hypoglycemia
-Hyperlactatemia
-Hyperalaninemia
-Hyperpyruvatemia
-Hyperammonemia
-Hyperammonemic encephalopathy
-Hypocalcemia
-Hypophosphatemia
-Hyperuricemia
-Hyperlipidemia
-Hepatomegaly
-Cardiomyopathy
-Renal tubular acidosis

Pyruvate carboxylase deficiency, infantile type is caused by mutations in the PC gene, which encodes the enzyme pyruvate carboxylase. Mutations in this gene lead to a deficiency of the enzyme, resulting in an inability to convert pyruvate to oxaloacetate, an important step in the Krebs cycle. This deficiency can lead to a variety of symptoms, including seizures, developmental delay, hypotonia, and metabolic acidosis.

1. Dietary therapy: A low-protein diet is recommended to reduce the amount of pyruvate produced in the body.

2. Supplementation: Supplementation with biotin, thiamine, and other vitamins and minerals may be necessary to correct any deficiencies.

3. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme.

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

5. Liver transplant: In some cases, a liver transplant may be necessary to correct the deficiency.

1. Genetic mutation: Pyruvate carboxylase deficiency, infantile type is caused by a mutation in the PCCB gene.

2. Family history: A family history of the disorder increases the risk of developing the condition.

3. Ethnicity: Pyruvate carboxylase deficiency, infantile type is more common in individuals of Ashkenazi Jewish descent.

4. Age: The condition is most commonly diagnosed in infants and young children.

Yes, there is a cure for Pyruvate carboxylase deficiency, infantile type. Treatment typically involves a combination of dietary modifications, medications, and supplements. Dietary modifications may include a low-protein diet and supplementation with essential fatty acids. Medications such as biotin, thiamine, and carnitine may be prescribed to help the body metabolize energy more efficiently. Supplements such as Coenzyme Q10 and lipoic acid may also be recommended to help improve energy production.