Homocystinuria due to cystathionine beta synthase deficiency

TNarayana Rao, K Radhakrishna, TS Mohana Rao, P Guruprasad, Kamal Ahmed
2008 Indian Journal of Dermatology, Venereology and Leprology  
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and fi nger spasms. Biochemical fi ndings include increased levels of homocysteine in the blood-106.62 µmol/L (normal levels: 5.90-16µmol/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
more » ... 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) defi ciency 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 fl ush, thin hair, and cutis reticulata / marmorata.
doi:10.4103/0378-6323.42916 pmid:18797062 fatcat:3mdyjujgxbht7kstxjhkqe6fvu