Homocystinuria due to cystathionine beta synthase deficiency.
Indian J Dermatol Venereol Leprol
; 2008 Jul-Aug; 74(4): 375-8
Article
em En
| 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.
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Índice:
IMSEAR
Assunto principal:
Piridoxina
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Vitamina B 12
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Complexo Vitamínico B
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Humanos
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Masculino
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Esquema de Medicação
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Pré-Escolar
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Administração Oral
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Resultado do Tratamento
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Cistationina beta-Sintase
Idioma:
En
Revista:
Indian J Dermatol Venereol Leprol
Ano de publicação:
2008
Tipo de documento:
Article