title: [Hereditary metabolic causes of stroke and pseudo-stroke in adulthood].
abstract: Metabolic diseases are a rare cause of strokes. However, prevention and treatment are available for some of them. This work describes some metabolic diseases generating strokes by disturbing directly vascular function (homocysteine disorders, Fabry disease, congenital defects of glycosylation) and those for which clinical presentation is similar to a stroke (urea cycle disorders, branched-chain organic acidurias, mitochondrial diseases).
authors.affiliation: Service de maladies métaboliques, Fédération de pédiatrie, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Nassogne
authors.forename: G
authors.initials: G
authors.lastname: Touati
authors.forename: C
authors.initials: C
authors.lastname: Beyler
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D000795:Fabry Disease / Q000150:complications; D006710:Homocysteine / Q000378:metabolism; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications*; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency; D020521:Stroke / Q000209:etiology*
chemical_list: D006710:Homocysteine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)