Homocystinuria due to cystathionine beta synthase deficiency.
Indian J Dermatol Venereol Leprol
;
2008 Jul-Aug; 74(4): 375-8
Article
Dans Anglais
| IMSEAR
| ID: sea-52297
ABSTRACT
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the muscle spasms as well as skin manifestations such as cutis marmorata subsided. The treatment is being continued; the case is reported here because of its rarity. Homocysteinuria arising due to cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder of methionine metabolism that produces increased levels of urinary homocysteine and methionine It manifests itself in vascular, central nervous system, cutaneous, and connective tissue disturbances and phenotypically resembles Marfan's syndrome. Skin manifestations include malar flush, thin hair, and cutis reticulata / marmorata.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Pyridoxine
/
Vitamine B12
/
Complexe vitaminique B
/
Humains
/
Mâle
/
Calendrier d'administration des médicaments
/
Enfant d'âge préscolaire
/
Administration par voie orale
/
Résultat thérapeutique
/
Cystathionine beta-synthase
langue:
Anglais
Texte intégral:
Indian J Dermatol Venereol Leprol
Année:
2008
Type:
Article
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