Methylcobalamin deficiency type cblE is a rare genetic disorder caused by a mutation in the MMACHC gene. This mutation results in a deficiency of the vitamin B12 coenzyme, methylcobalamin. Symptoms of this disorder can include developmental delay, intellectual disability, seizures, and vision and hearing loss. Treatment typically involves supplementation with methylcobalamin, as well as other vitamins and minerals.

The symptoms of Methylcobalamin deficiency type cblE include:

-Fatigue
-Weakness
-Numbness and Tingling in the hands and feet
-Loss of balance
-Difficulty walking
-Loss of appetite
-Weight loss
-Depression
-Memory problems
-Confusion
-Headaches
-Anemia
-Abnormal heart rhythms
-Vision problems
-Hearing loss
-Gastrointestinal problems
-Skin rashes
-Joint pain
-Muscle pain
-Abnormal blood cell counts

1. Genetic mutations: Mutations in the MMACHC gene, which is responsible for the production of the enzyme methylmalonyl-CoA mutase, can cause a deficiency in methylcobalamin.

2. Diet: A diet lacking in vitamin B12 can lead to a deficiency in methylcobalamin.

3. Malabsorption: Certain conditions, such as Crohn’s disease, can lead to malabsorption of vitamin B12, resulting in a deficiency in methylcobalamin.

4. Medications: Certain medications, such as metformin, can interfere with the absorption of vitamin B12, leading to a deficiency in methylcobalamin.

1. Oral supplementation with methylcobalamin: Oral supplementation with methylcobalamin is the most common treatment for CblE deficiency. Methylcobalamin is available in both pill and liquid form and is usually taken once or twice daily.

2. Intramuscular injections of methylcobalamin: Intramuscular injections of methylcobalamin may be used in cases where oral supplementation is not effective or not tolerated.

3. Dietary changes: Dietary changes may be recommended to ensure adequate intake of vitamin B12. This may include increasing intake of foods rich in vitamin B12, such as meat, fish, eggs, and dairy products.

4. Folic acid supplementation: Folic acid supplementation may be recommended to help reduce the symptoms of CblE deficiency.

5. Other treatments: Other treatments may include

1. Premature birth
2. Low birth weight
3. Poor nutrition
4. Gastrointestinal disorders
5. Liver disease
6. Kidney disease
7. Malabsorption syndromes
8. Certain genetic disorders
9. Certain medications
10. Alcoholism

Yes, there is a treatment for Methylcobalamin deficiency type cblE. Treatment typically involves taking a daily supplement of methylcobalamin, which is a form of vitamin B12. This supplement can be taken orally or injected. Additionally, a doctor may recommend dietary changes to ensure adequate intake of vitamin B12.