Ahomocysteinemia in molybdenum cofactor deficiency
作者： W. D. Graf , O. E. Oleinik , R. M. Jack , A. H. Weiss , J. L. Johnson
DOI: 10.1212/WNL.51.3.860
关键词:
摘要: We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations plasma cystine, high levels urinary S-sulfocysteine sulfite, oxypurines in urine. The depletion cysteine cystine through reaction sulfite suggests that other thiols thiol-dependent proteins may be similarly depleted. Ahomocysteinemia clue to the mechanism cytotoxicity MCD.
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