JISCMail - ACB-CLIN-CHEM-GEN Archives

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

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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]

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