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
Priv.-Doz. Dr. med.
Michael Steiner
Arzt für Laboratoriumsmedizin
Ärztlicher Leiter
email: <[log in to unmask]>
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Medizinisches Labor Rostock
Labormedizinisches Versorgungszentrum GbR
Südring 81
D-18059 Rostock
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