title: Homocystinuria due to cystathionine beta synthase deficiency.
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.
authors.affiliation: Department of Dermatology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India. tnr_derma@yahoo.com
authors.forename: T Narayana
authors.initials: TN
authors.lastname: Rao
authors.forename: K
authors.initials: K
authors.lastname: Radhakrishna
authors.forename: T S
authors.initials: TS
authors.lastname: Mohana Rao
authors.forename: P
authors.initials: P
authors.lastname: Guruprasad
authors.forename: Kamal
authors.initials: K
authors.lastname: Ahmed
mesh_terms: D000284:Administration, Oral; D002675:Child, Preschool; D003541:Cystathionine beta-Synthase / Q000172:deficiency* / Q000235:genetics; D004334:Drug Administration Schedule; D004359:Drug Therapy, Combination; D005492:Folic Acid / Q000008:administration & dosage; D005808:Genes, Recessive; D006712:Homocystinuria / Q000150:complications / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D054068:Livedo Reticularis / Q000209:etiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D011736:Pyridoxine / Q000008:administration & dosage; D016896:Treatment Outcome; D014805:Vitamin B 12 / Q000008:administration & dosage; D014803:Vitamin B Complex / Q000008:administration & dosage
chemical_list: D014803:Vitamin B Complex; D005492:Folic Acid; D003541:Cystathionine beta-Synthase; D011736:Pyridoxine; D014805:Vitamin B 12