Premium
Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult
Author(s) -
Tonetti Carole,
Ruivard Marc,
Rieu Virginie,
Zittoun Jacqueline,
Giraudier Stephane
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03876.x
Subject(s) - methylenetetrahydrofolate reductase , missense mutation , medicine , reductase , exon , methionine , hyperhomocysteinemia , homocystinuria , homocysteine , pulmonary embolism , pediatrics , mutation , endocrinology , physiology , genetics , gene , enzyme , biology , allele , biochemistry , amino acid
Summary. Deficiency in methylenetetrahydrofolate reductase (MTHFR), the enzyme involved in the remethylation of homocysteine to methionine using methyltetrahydrofolate as cofactor, induces hyperhomocysteinaemia, homocysteinuria, hypomethioninaemia and low methylfolate levels. Diagnosis usually occurs during infancy because of various neurological abnormalities. We report MTHFR deficiency diagnosed in an adult woman after a pulmonary embolism. Her adult sister, intellectually retarded, suffered from the same disease. Molecular analysis of the MTHFR gene exhibited four different mutations (two missense mutations, one exon skipping and C677T). The impact of these mutations was analysed through the biological abnormalities in the parents and children.