Sarcosinemia is an inherited disorder caused by a deficiency of the enzyme sarcosine dehydrogenase. This enzyme is responsible for breaking down the amino acid sarcosine, which is found in proteins. People with this disorder have an accumulation of sarcosine in their bodies, which can lead to a variety of symptoms, including seizures, developmental delays, and movement disorders.

The symptoms of Sarcosinemia can vary depending on the severity of the condition. Common symptoms include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Growth retardation
-Feeding difficulties
-Hypotonia
-Behavioral problems
-Hearing loss
-Vision problems
-Gastrointestinal issues
-Cardiac arrhythmias
-Muscle weakness
-Liver and kidney dysfunction

Sarcosinemia is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase (ASL). This enzyme is responsible for breaking down the amino acid arginine into the amino acid sarcosine. Without this enzyme, arginine builds up in the body, leading to a variety of symptoms. The most common cause of Sarcosinemia is a mutation in the ASL gene, which is inherited in an autosomal recessive pattern. Other causes include a deficiency of the enzyme argininosuccinate synthetase (ASS) or a deficiency of the enzyme argininosuccinate synthetase-associated protein (ASAP).

The primary treatment for Sarcosinemia is dietary management. This includes avoiding foods that are high in sarcosine, such as red meat, poultry, fish, eggs, dairy products, and legumes. It is also important to ensure that the diet is balanced and contains adequate amounts of essential vitamins and minerals.

In addition to dietary management, medications may be prescribed to help manage symptoms. These medications may include anticonvulsants, muscle relaxants, and/or anti-inflammatory drugs. In some cases, enzyme replacement therapy may be recommended. This involves the administration of a synthetic form of the enzyme that is deficient in Sarcosinemia.

Finally, physical and occupational therapy may be recommended to help improve muscle strength and coordination.

1. Genetic mutations in the AGAT gene
2. Consanguinity
3. Exposure to certain environmental toxins
4. Certain medications
5. Poor nutrition
6. Low birth weight
7. Premature birth
8. Exposure to radiation

There is no known cure for Sarcosinemia, but medications may be used to help manage the symptoms. These medications may include anticonvulsants, muscle relaxants, and medications to help with sleep. Additionally, dietary changes may be recommended to help manage the symptoms.