Cerebral Creatine Deficiency Syndrome Type II

What is cerebral creatine deficiency syndrome type II?

Cerebral creatine deficiency syndrome type II (CCDS2), also known as guanidinoacetate methyltransferase deficiency, is caused by the body not having enough of a specific enzyme called guanidinoacetate methyltransferase. This enzyme is important for energy production in the body. People with CCDS2 may have intellectual delays similar to autism, movement problems, and seizures. Children usually first show symptoms between the ages of three months and three years.

How common is cerebral creatine deficiency syndrome type II?

About 1 in 250,000 babies are born with CCDS2 each year in the United States.

What can be done for cerebral creatine deficiency syndrome type II?

Identifying this condition early (soon after birth) is critical for treatment. Treatments for CCDS2 include oral creatine monohydrate supplements and certain dietary restrictions. When treatment begins soon after birth, babies with CCDS2 can develop and thrive normally, mostly without signs or symptoms of the condition.

How is cerebral creatine deficiency syndrome type II inherited?

Cerebral creatine deficiency syndrome type II is caused by changes in the GAMT gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the GAMT gene, one from each parent, in order to have the disease. People who have only one copy of the altered GAMT gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for CCDS2 through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://www.ncbi.nlm.nih.gov/books/NBK3794/
https://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency#diagnosis

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