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What are BHMT gene mutations?
BHMT (betaine homocysteine methyltransferase) acts as a shortcut through the methylation cycle. But helping convert homocysteine to methionine. So the activity of the enzyme can be negatively influenced by stress. The Information on this enzyme related to methylation. It is also mostly based on Dr. Amy Yasko’s clinical experience and research.
According to Dr. Yasko, a homozygous mutation of BHMT 01, BHMT 02, and BHMT 04. However, can produce results similar to one with a CBS up-regulation. Even if you don’t have a CBS upregulation. In her book, Autism: Pathways to Recovery. She also states that a BHMT 08 mutation may “increase MHPG levels relative to dopamine breakdown (HVA)”. This can result in attention type symptoms. It is also common to see elevated glycine in someone with a homozygous BHMT 08 mutation.
BHMT problems / Symptoms
- Problem with gut function
- Neural tube defects
- Liver detoxification problems
- Homocysteine imbalances
TMG (Trimethylglycine or Betaine) deficiency – problems with gut function, and high homocysteine. But also the poor conversion of homocysteine to methionine.
Methionine deficiency – fat accumulation, fatty liver, lowered glutathione production, build up of toxins, and cardiovascular problems. So it raised inflammatory histamine, poor memory, lowered immunity, and UTI. It also reduced the same production.
Glycine deficiency – Low energy, blood sugar imbalance, fatigue, hypoglycemia, anemia, and chronic fatigue syndrome (CFS). But also digestive problems, seizure, depression, memory problems, Schizophrenia, Parkinson’s disease, and Huntington’s disease
Serine deficiency – Brain function, nervous system, immune system, and chronic fatigue syndrome (CFS). But also depression, insomnia, confusion, anxiety, and fibromyalgia.
Threonine deficiency – Cardiovascular problems, liver, central nervous system, immune system, and liver failure (fatty liver). But also depression, Amyotrophic Lateral Sclerosis (ALS).
Zinc deficiency symptoms – Poor sense of taste or smell, and white marks on more than two fingernails. Frequent infections, stretch marks, acne or greasy skin, low fertility, pale skin, tendency to depression, loss of appetite. Signs and symptoms of zinc deficiency observed in children are growth retardation. (caused by inadequate cell division needed for growth), skeletal abnormalities (from impaired development of epiphyseal cartilage. But the defective collagen synthesis or cross-linking), poor wound healing, and diarrhea. Skin rash/lesions/dermatitis (especially around body orifices), and delayed sexual maturation.
Some signs and symptoms of deficiency in adults include anorexia, diarrhea, lethargy, and depression. Skin rash/lesions/dermatits, hypogeusia (blunting of sense of taste), alopecia (hair loss), and impaired immune function. Protein synthesis, and wound healing. Some population groups—especially the elderly, children of low income, vegetarians. Those with alcoholism— have been found to consume less than adequate amounts of zinc. Conditions associated with an increased need for intake include trauma, sickle cell anemia, and malabsorption.
BHMT Liver Detox – Phase 2
- BHMT A7961G
- R239Q
- BHMT -02 C13813T
- BHMT -08 C6457T
Methylation & Methionine / Homocysteine Pathyways
- BHMT A7961G
- R239O
- BHMT -02 C13813T
- BHMT -08 C6457T
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