I presume it is carnitine palmitoyl transferase 2 deficiency. There
is a South American Inborn Errors Site, with contacts at:
http://tzetzal.dcaa.unam.mx/home/Mosaic/proyecto-bio/Menu_prin.html
Or at least it used to be, I've just had problems connecting to this
site.
Simon Eaton
> Date: 28 Oct 1997 00:37:13 -0800
> From: athel at IR2CBM.CNRS-MRS.FR (Athel)
> Reply-to: athel at IR2CBM.CNRS-MRS.FR (Athel)
> To: "bionet.metabolic-reg mail newsgroup"
> <bionet-news at dl.ac.uk> Subject: Re: CTP2
> jesus j. solis s. wrote:
>> >Mi hijo Jesus Javier de un aqo de edad a sido diagnosticado de
> >CTP2, agradezco a quien tenga informacisn sobre esta enfermedad
>> which means
>> >My son Jesus Javier, who is one year old, has been diagnosed as
> >having CPT2. I should be grateful if anyone could supply
> >information about this disease.
>> Unfortunately I can't help directly, but I think it would be useful
> to know what the letters CTP2 stand for (maybe it's not a metabolic
> disease at all), and I have sent a message to JJSS asking him if his
> doctor can tell him this.
>> Athel
>> Email: athel at bigfoot.com> Home page: http://ir2lcb.cnrs-mrs.fr/lcbpage/athel/homepage.htm MCA
> FAQ: http://ir2lcb.cnrs-mrs.fr/lcbpage/athel/mcafaq.htm MCA chapter
> from my book: http://ir2lcb.cnrs-mrs.fr/lcbpage/athel/mcai.htm>>>>Simon Eaton
Research Fellow, Unit of Paediatric Surgery
Institute of Child Health
30 Guilford Street, London WC1N 1EH
Phone +44 171 242 9789 ext. 2254/2247
Fax +44 171 404 6181