کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1999172 | 1065844 | 2006 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12
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کلمات کلیدی
methylmalonic acidRemethylationdemyelination - demyelinimasMethylmalonic acidemia - اسیدمیوم متالمالونیکInborn errors of metabolism - خطاهای متولد شده متابولیسمSubacute combined degeneration - دژنراسیون ترکیبی زیر قاعدهMethionine - متیونینMyelopathy - میلوپاتیneuropathology - نوروپاتولوژی یا آسیب شناسی عصبیHomocystinuria - هموسیستینوریhomocysteine - هوموسیستئینperipheral neuropathy - پلینوریتcobalamin - کبالالین
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Subacute combined degeneration (SCD) of the spinal cord is a characteristic complication of vitamin B12 deficiency, but it has never been neuropathologically demonstrated in a B12-inborn error of metabolism. In this report SCD is documented in a 15-year-old boy with early-onset cobalamin C (cblC) disorder. The neuropathologic findings included multifocal demyelination and vacuolation with predilection for the dorsal and lateral columns at the mid-thoracic level of the spinal cord, confirming the similarity of SCD in cblC disorder to the classic adult SCD due to vitamin B12 deficiency. SCD developed in this boy despite treatment for cblC disorder that began at 3 months of age. There is clinical and experimental evidence to suggest that a deficiency in remethylation with concomitant reduction in brain methionine may be the cause of SCD. In this patient plasma methionine levels were low without betaine and/or l-methionine supplementation and in the normal range for only a 2-year period during compliance with therapy. In cblC disorder, a consistent increase in blood methionine to high normal or above normal levels by the use of betaine and l-methionine supplementation may be helpful in preventing SCD. This is especially important now that the presymptomatic detection of cblC disorder is possible through the expansion of newborn screening.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 88, Issue 2, June 2006, Pages 138-145
Journal: Molecular Genetics and Metabolism - Volume 88, Issue 2, June 2006, Pages 138-145
نویسندگان
Sharon E. Smith, Hannah C. Kinney, Kathryn J. Swoboda, Harvey L. Levy,