HUM-MOLGEN DIAGnostics/Clinical Research


7 May 1997
Cytochrome C Deficiency


Dear Colleagues,

I am sending this message on the part of a parent of a case of cytochrome c oxidase deficiency. He had another child with the same condition who died of heart failure at the age of 4 months. The case is a girl and she is suffering of psychomotor retardation with hypertrophic cardiomopathy. She is currently on high doses of vitamins and carnitine. She has been advised to receive coenzyme q10(100 mg/kg/day) which has been reported to be helpful in cases of mitochondrial myopathy.

He is in need to know some center or group who is experienced in the management of such cases, and is asking whether there is a hope for other effective lines of therapy. Clinical details and all lab investigations are available on your request.

Thank you O.K. ZAKI,MD


Reply To: ED-MOLGEN@NIC.SURFNET.NL