Names and CodesCondition:1Methylene tetrahydrofolate reductase deficiencySNOMED CT Code:341797007—5,10-Methylenetetrahydrofolate reductase deficiency UMLS CUI:4C0268615ICD-9-CM Code:5270.4—Disturbances of sulphur-bearing amino-acid metabolismICD-10-CM Code:6E72.12—Methylenetetrahydrofolate reductase deficiency2 more rows
Most Common ICD CodesICD 10 CodeClinical Indicationz13.79Encounter for other screening for genetic and chromosomal anomalies.z13.89Encounter for screening for other disorder.z13.228Encounter for screening for other metabolic disorders.z34.00Encounter for supervision of normal first pregnancy, unspecified trimester.20 more rows
ICD-10 code Z15. 89 for Genetic susceptibility to other disease is a medical classification as listed by WHO under the range - Factors influencing health status and contact with health services .
ICD-10 code E72. 12 for Methylenetetrahydrofolate reductase deficiency is a medical classification as listed by WHO under the range - Endocrine, nutritional and metabolic diseases .
79 for Encounter for other screening for genetic and chromosomal anomalies is a medical classification as listed by WHO under the range - Factors influencing health status and contact with health services .
Encounter for screening for other diseases and disorders Screening is the testing for disease or disease precursors in asymptomatic individuals so that early detection and treatment can be provided for those who test positive for the disease.
Each person has two copies of each MTHFR gene SNP (single nucleotide polymorphism) — they get one from each parent. Gene mutations can affect one (heterozygous) or both copies (homozygous). Health issues are more likely to occur when both genes are affected. This happens in 10% to 15% of people.
One specific MTHFR SNP mutation is C677T. This mutation can cause hyperhomocysteinemia. This condition is characterized by high levels of homocysteine in the blood. Elevated homocysteine levels damage the lining of the arteries and speed up the blood clotting.
Just like C677T, A1298C mutation can have a negative effect on pregnancy. Research found that women with A1298C mutation suffered from elevated homocysteine levels. It showed that women carrying this gene SNP are at significant risk of vascular-related pregnancy complications.
Many women live with MTHFR gene mutations and can still give birth to healthy babies. However, if the mutation is discovered before or during pregnancy, several treatment options exist to improve the health of both the fetus as well as the mother.