Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare genetic disorder caused by a mutation in the NFS1-ISD11 gene. This gene is responsible for the production of an enzyme complex that helps to break down fatty acids in the body. When this enzyme complex is deficient, it can lead to a buildup of lactic acid in the body, resulting in severe neonatal lactic acidosis. Symptoms of this disorder include low blood sugar, poor feeding, vomiting, and seizures. Treatment typically involves dietary modifications and medications to help reduce the lactic acid levels in the body.

The symptoms of Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency include:

-Hypotonia
-Lethargy
-Poor feeding
-Respiratory distress
-Seizures
-Developmental delay
-Lactic acidosis
-Hyperammonemia
-Hypoglycemia
-Hyperuricemia
-Hyperlipidemia
-Hepatomegaly
-Renal tubular acidosis
-Hypocalcemia
-Hypophosphatemia
-Hyperkalemia
-Hypoketotic hypoglycemia
-Cardiomyopathy
-Growth retardation

Neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is caused by a genetic mutation in the NFS1-ISD11 complex gene. This gene is responsible for the production of an enzyme called iron-sulfur cluster assembly enzyme 1 (ISCU1). This enzyme is essential for the production of iron-sulfur clusters, which are important for the proper functioning of many proteins in the body. Mutations in this gene can lead to a deficiency in the production of ISCU1, resulting in severe neonatal lactic acidosis.

The primary treatment for Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is to provide supportive care, including oxygen supplementation, intravenous fluids, and electrolyte replacement. Additionally, the administration of riboflavin (vitamin B2) may be beneficial in some cases. In some cases, hemodialysis may be necessary to reduce the levels of lactic acid in the blood. In some cases, a liver transplant may be necessary to improve the patient's prognosis.

1. Premature birth
2. Low birth weight
3. Low Apgar scores
4. Respiratory distress
5. Hypoglycemia
6. Hypocalcemia
7. Hyperammonemia
8. Hyperlactatemia
9. Metabolic acidosis
10. Hypotonia
11. Poor feeding
12. Seizures
13. Developmental delay
14. Cardiomyopathy
15. Liver dysfunction

At this time, there is no known cure for Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency. However, there are medications that can be used to manage the symptoms of this condition. These medications include sodium bicarbonate, which helps to reduce the acidity of the blood, and other medications that help to reduce the production of lactic acid. Additionally, dietary modifications may be recommended to help reduce the amount of lactic acid in the body.