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I think it is worth exploring any remethylation defects. What was the plasma methionine? My suggestion is to do common thermolabile MTHFR 677 mutation first, and failing that to sequence the whole MTHFR - it is quite small gene anyway; and we do it here at St Thomas'. We have discovered few novel mutations especially in non-caucasian patients. Regards Yusof __________________________________________ Dr Yusof Rahman, Consultant in Adult Inherited Metabolic Disease, Centre for Inherited Metabolic Disorders Level 6, Evelina Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, Westminster Bridge Road, London SE1 7EH Tel: +44 207 188 4004 Fax: +44 207 188 0851 ________________________________ From: Clinical biochemistry discussion list [mailto:[log in to unmask]] On Behalf Of Steiner, Michael Sent: 11 September 2012 18:18 To: [log in to unmask] Subject: Pronounced hyperhomocysteinaemia ? Dear colleagues, We established massively increased homocysteine in a young patient (born in 1985) and the value was 135 µmol/L- by far the highest value we have seen for years. The patient's history is remarkable for deep vein thrombosis/pulmonary embolism. I was thinking that this might be a rare case of inherited hyperhomocystinuria due to CBS deficiency (OMIM 236200) and we sequenced the gene - without finding a mutation. Reconsidering the case I would like you to share wisdom as related to the possible extent of acquired (may this reach 135 µmol/L) vs inherited hyperhomocysteinaemia. In addition, if genetic in origin, where should we go next ? Best regards, Mike Priv.-Doz. Dr. med. Michael Steiner Ärztlicher Leiter Medizinisches Labor Rostock Suedring 81 D-18059 Rostock [log in to unmask] Priv.-Doz. Dr. med. Michael Steiner Arzt für Laboratoriumsmedizin Ärztlicher Leiter email: <[log in to unmask]> _______________________________ Medizinisches Labor Rostock Labormedizinisches Versorgungszentrum GbR Südring 81 D-18059 Rostock Medizinisches Labor Rostock | Südring 81 | D-18059 Rostock Tel: + 49 (381) 70 22 100 | Fax: + 49 (381) 70 22 109 | email: [log in to unmask] Diese E-Mail enthält vertrauliche und/oder rechtlich geschützte Informationen. Wenn Sie nicht der richtige Adressat sind oder diese E-Mail irrtümlich erhalten haben, informieren Sie bitte sofort den Absender und vernichten Sie diese Mail. Das unerlaubte Kopieren sowie die unbefugte Weitergabe dieser Mail ist nicht gestattet. This e-mail may contain confidential and/or privileged information. If you are not the intended recipient (or have received this e-mail in error) please notify the sender immediately and destroy this e-mail. 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