 |
 |
You should contact Dr Gaia Salomons at the "Vrije Universiteit" medical centre VUMC in Amsterdam. She has very much expertise in this specific syndrome. Her email is [log in to unmask] With regards, Bart Ballieux Dr. Ir. B.E.P.B. Ballieux Clinical Biochemist Leiden University Medical Centre P.O. box 9600 2300 RC Leiden The Netherlands t: +3171-5262165 f: +3171-5266753 e: [log in to unmask] -----Original Message----- From: Clinical biochemistry discussion list [mailto:[log in to unmask]]On Behalf Of Scott, Nigel - Biochemistry Sent: woensdag 5 april 2006 16:44 To: [log in to unmask] Subject: Urine creatine/creatinine ratios Hi Our consultant in Clinical Genetics has approached me regarding a newly recognised X-linked mental retardation syndrome involving a mutation of the creatine transporter gene SLC6A8. Boys with this mutation present with limited speech and sometimes epilepsy and have been shown to have reduced urine creatine/creatinine ratios. I have been asked whether it would be possible to perform these measurements on selected boys with mental retardation and I would be interested to hear from anyone who is able to offer creatine levels. Kind regards Nigel Scott Consultant Clinical Biochemist Clinical Biochemistry Department Northampton General Hospital Northampton NN1 5BD Tel: 01604 545005 Fax: 01604 634347 Hi There is a fairly newly recognised X-linked mental retardation syndrome, with little speech and sometimes epilepsy, that has been shown to be due to creatine problems - either failure of production or transportation across the blood brain barrier. I am considering if it is possible to look for this in selected boys with MR. The papers suggest doing a urine creatine/creatinine ratio as a screen - is this feasible and what would it cost? does it need a 24hr collection? Sue Northampton General Hospital NHS Trust Cliftonville, Northampton NN1 5BD This e-mail may contain confidential information and/or copyright material and is intended for the use of the addressee only. Any unauthorised use may be unlawful. The contents of this e-mail may be subject to public disclosure under the NHS Code of Openness or the Freedom of Information Act 2000. Unless legally exempt, the confidentiality of the message and your reply cannot be guaranteed. If you receive this e-mail by mistake, please advise the sender immediately. Thank you. ------ACB discussion List Information-------- This is an open discussion list for the academic and clinical community working in clinical biochemistry. Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual and they are responsible for all message content. ACB Web Site http://www.acb.org.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/ ------ACB discussion List Information-------- This is an open discussion list for the academic and clinical community working in clinical biochemistry. Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual and they are responsible for all message content. ACB Web Site http://www.acb.org.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/