A member asked:

Can anyone explain what a1298c homozygous genetic mutation could cause?

4 doctors weighed in across 2 answers
Dr. James Ball answered

Specializes in Pediatric Hematology and Oncology

MTHFR mutation: The genetic finding can possibly increase clotting problems. The mthfr protein is responsible for metabolism of homocysteine. High homocysteine levels can aggravate vessel walls causing a higher risk of clotting. The high homocysteine levels can be treated with folate (folic acid) supplementation, which should decrease the risk.

Answered 6/19/2015

5.6k views

Thank
Dr. Su Fairchild answered

Specializes in Integrative Medicine

See below: Mthfr 1298 is not associated with higher homocysteine. That is what the 677 does. 1298 can have: • increased ammonia level • decreased Dopamine & serotonin • decreased epi and norepi • decreased nitric oxide • increased blood pressure • muscle tenderness • prone to bh4 shortage. • may benefit from lower protein diet as ammonia depletes bh4.

Answered 6/17/2018

5.3k views

Thank

Related Questions

A member asked:

How does a genetic mutation cause sickle-cell disease?

5 doctors weighed in across 2 answers

A member asked:

Which type of genetic mutation can cause breast cancer?

A doctor has provided 1 answer