Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings

J M Visy; P Le Coz; B Chadefaux; C Fressinaud; F Woimant; J Marquet; J Zittoun; J Visy; J M Vallat; M Haguenau

doi:10.1212/wnl.41.8.1313

Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings

Neurology. 1991 Aug;41(8):1313-5. doi: 10.1212/wnl.41.8.1313.

Authors

J M Visy¹, P Le Coz, B Chadefaux, C Fressinaud, F Woimant, J Marquet, J Zittoun, J Visy, J M Vallat, M Haguenau

Affiliation

¹ Service de neurologie Hopital lariboisiére, Paris, France.

PMID: 1866027
DOI: 10.1212/wnl.41.8.1313

Abstract

Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency and had severe recurrent strokes in adult life. Two of the patients died 1 year after clinical onset.

MeSH terms

5,10-Methylenetetrahydrofolate Reductase (FADH2)
Adult
Cerebrovascular Disorders / etiology*
Cerebrovascular Disorders / genetics
Female
Homocysteine / blood
Homocystinuria / blood
Homocystinuria / etiology*
Homocystinuria / urine
Humans
Male
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases / deficiency*
Oxidoreductases / metabolism
Tissue Distribution

Substances

Homocysteine
Oxidoreductases
5,10-Methylenetetrahydrofolate Reductase (FADH2)
Methylenetetrahydrofolate Reductase (NADPH2)