Our Choose a Fertility Clinic Consultation is live.Find out more here.
Homocystinuria due to deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity
OMIM number: 236250
Comments closing date: 01/10/2025
| Homocystinuria due to deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity (also known as MTHFR Deficiency) is a metabolic disorder that reduces or inhibits vitamin B9 metabolism. Defects in the MTHFR gene mean that the individual cannot produce the MTHFR enzyme to convert homocysteine into the amino acid methionine. This then causes harmful levels of homocysteine to accumulate in the body, leading to homocystinuria. Symptoms can begin from birth and can include abnormal clotting, bone and joint problems including osteoporosis, visual disturbance, developmental delay, seizures, intellectual disability, and microcephaly. MTHFR Deficiency is inherited in an autosomal recessive fashion. A child will have to inherit a variant gene from each of it’s parents to show symptoms. If the condition is identified at birth, in some babies it may be possible to treat with vitamin supplements and a controlled diet. Certain medicines may be effective in treating some individuals. These will be required to be taken life long. Later treatment does not reverse the symptoms of this condition. This condition can affect every aspect of life for some patients and can be life limiting. |
Review date: 3 September 2027
