BHMT mutation

Get tested for BHMT gene mutation here.

What are BHMT gene mutations?

BHMT (betaine homocysteine methyltransferase) acts as a shortcut through the methylation cycle helping convert homocysteine to methionine. The activity of the enzyme can be negatively influenced by stress. The Information on this enzyme related to methylation is mostly based on Dr. Amy Yasko’s clinical experience and research.

According to Dr. Yasko, a homozygous mutation of BHMT 01, BHMT 02, BHMT 04, 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 common to see elevated glycine in someone with a homozygous BHMT 08 mutation.

BHMT problems / Symptoms

TMG (Trimethylglycine or Betaine) deficiency – problems with gut function, high homocysteine, poor conversion of homocysteine to methionine.

Methionine deficiency – fat accumulation, fatty liver, lowered glutathione production, build up of toxins, cardiovascular problems, rasied inflammatory histamine, poor memory, lowered immunity, UTI, reduced SAMe production.

Glycine deficiency – Low energy, blood sugar imbalance, fatigue, hypoglycemia, anemia, chronic fatigue syndrome (CFS), digestive problems, seizure, depression, memory problems, Schizophrenia, Parkinson’s disease, Huntington’s disease

Serine deficiency – Brain function, nervous system, immune system, chronic fatigue syndrome (CFS), depression, insomnia, confusion, anxiety, fibromyalgia.

Threonine deficiency – Cardiovascular problems, liver, central nervous system, immune system, liver failure (fatty liver), depression, Amyotrophic Lateral Sclerosis (ALS).

Zinc deficiency symptoms – Poor sense of taste or smell, 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, or defective collagen synthesis or cross-linking), poor wound healing, 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, 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, and 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
  • BHMT R239Q
  • BHMT -02 C13813T
  • BHMT -08 C6457T

Methylation & Methionine / Homocysteine Pathyways

  • BHMT A7961G
  • BHMT R239O
  • BHMT -02 C13813T
  • BHMT -08 C6457T


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