Segawa disease

IWo disorders of BH4 metabolism may present without hyperphenylalaninemia. These are Dopa-responsive dystonia (DRD Segawa disease) and sepiapterin reductase (SR) deficiency. While DRD is caused by a mutation in the GTPCH gene and is inherited in an autosomal dominant manner, SR deficiency is an autosomal recessive trait. Both diseases evidence severe biogenic amines deficiencies. DRD usually presents with a dystonic gait and diurnal variation. At least two reports describe heteroallelic patients with DRD suggesting a wide spectrum of GTPCH variants. 

D op a-responsive dystonia (DRD) Autosomal dominant GTPCH deficiency (Segawa disease, hereditary progressive dystonia) liver, brain, kidney, lymphocytes 14q22.1--22.2 600225... 

Sanfilippo syndrome, type C Sanfilippo syndrome, type D Santavuori disease Saposin B deficiency Sarcosine dehydrogenase deficiency Scheie syndrome Schindler disease Segawa disease... 

T. Matsubara, S. Minatoguchi, H. Matsuo, K. Hayakawa, T. Segawa, Y. Matsuno, S. Watenabe, M. Arai, Y. Uno, M. Kawasaki, T. Noda, G. Takemura, K. Nishigaki, H. Fujiwara, Three minutes, but not one minute, ischemia and nicorandil have a preconditioning effect in patients with coronary artery disease, J Am Coll Cardiol 35, 345-51 (2000). 

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