Successful intrauterine treatment of a patient with cobalamin C defect

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• 作者：Friedrich K. Trefz^a ; ; Dagmar Scheible^b ; Georg Frauendienst-Egger^b ; Martina Huemer^c ; ^d ; Terttu Suomala^d ; Brian Fowler^d ; Dorothea Haas^a ; Matthias R. Baumgartner^d
• 关键词：cblC ; cobalamin C ; Hcy ; homocysteine ; OHCbl ; hydroxycobalamin ; tHcy ; total homocysteine ; MeCbl ; methylcobalamin ; AdoCbl ; adenosylcobalamin ; CNCbl ; cyanocobalamin
• 刊名：Molecular Genetics and Metabolism Reports
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：6
• 期：Complete
• 页码：55-59
• 全文大小：585 K

文摘

Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects cobalamin metabolism. Patients are treated with hydroxycobalamin to ameliorate the clinical features of early-onset disease and prevent clinical symptoms in late-onset disease. Here we describe a patient in whom prenatal maternal treatment with 30 mg/week hydroxycobalamin and 5 mg/day folic acid from week 15 of pregnancy prevented disease manifestation in a girl who is now 11 years old with normal IQ and only mild ophthalmic findings. The affected older sister received postnatal treatment only and is severely intellectually disabled with severe ophthalmic symptoms. This case highlights the potential of early, high-dose intrauterine treatment in a fetus affected by the cblC defect.