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 CASE REPORT
Year : 2008  |  Volume : 74  |  Issue : 4  |  Page : 375--378

Homocystinuria due to cystathionine beta synthase deficiency


Department of Dermatology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India

Correspondence Address:
T Narayana Rao
Prof. and HOD of Dermatology, 15-14-15, Doctor`s Enclave, Near collectors office, Opp. Sagar Lodge, Visakhapatnam - 530 002
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.42916

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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 Ámol/L (normal levels: 5.90-16Ámol/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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Online since 15th March '04
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