Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.
Br J Haematol
; 119(2): 397-9, 2002 Nov.
Article
em En
| MEDLINE
| ID: mdl-12406076
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Embolia Pulmonar
/
Metilenotetra-Hidrofolato Desidrogenase (NADP)
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
França