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Annotation Molecular genetics of methylenetetrahydrofolate reductase deficiency
Author(s) -
Rozen R.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799831
Subject(s) - methylenetetrahydrofolate reductase , thermolabile , genetics , human genetics , neural tube , mutation , medicine , endocrinology , biology , enzyme , biochemistry , allele , gene , embryo
Summary In severe MTHFR deficiency with neonatal or adolescent onset, 9 rare mutations have been identified. In mild MTHFR deficiency with thermolabile enzyme, a single common mutation (an alanine‐to‐valine substitution) is involved, but a genetic‐nutrient interactive effect is required to produce mild hyperhomocysteinaemia. This interactive effect has been proposed to be a risk factor for arteriosclerosis and for neural‐tube defects. Large‐scale studies are required for confirmation of the role of MTHFR in these multifactorial processes as well as to assess its role in other folate‐dependent disorders.