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Good obstetric outcome in a patient with Segawa disease.

Department of Obstetrics and Gynecology, Jichi Medical University, Tochigi, Japan. Correspondence: Shigeki Matsubara; Department of Obstetrics and Gynecology, Jichi Medical University; 3311-1 Yakushiji, Shimotsuke, Tochigi; 329-0498 Japan; E-mail: [email protected] Conflict of interest: There is no conflict of interest to declare. Received 23 January 2012; Received in final form 02 February ...

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

Autosomal dominant guanosine triphosphate cyclohydrolase I (GCH-I) deficiency (Segawa disease) is a dopa-responsive dystonia caused by mutation of the GCH-I gene located on 14q22.1-q22.2. Neurohistochemical examination revealed a decrease of the tyrosine hydroxylase protein as well as its activity in the striatum and decrease of dopamine content, particularly in its ventral portion rich in D1 r...

Tiglicaciduria in Propionicacidaemia By WILLIAM L . NYHAN , TOSHIYUKI ANDO

Propionicacidaemia is an inborn error of organic acid metabolism in which there is a defect in propionyl-CoA carboxylase activity, and a clinical picture of overwhelming illness very early in life which was originally described as ketotic hyperglycinaemia (Childs et al., 1961; Hommes et al., 1968; Hsia et al., 1970). These patients have large amounts of glycine in their blood and urine. They al...