Abstract:
:We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, and bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations of plasma cystine, high levels of urinary S-sulfocysteine and sulfite, and high levels of oxypurines in serum and urine. The depletion of cysteine and cystine through reaction with sulfite suggests that other thiols and thiol-dependent proteins may be similarly depleted. Ahomocysteinemia may be a clue to the mechanism of cytotoxicity in MCD.
journal_name
Neurologyjournal_title
Neurologyauthors
Graf WD,Oleinik OE,Jack RM,Weiss AH,Johnson JLdoi
10.1212/wnl.51.3.860subject
Has Abstractpub_date
1998-09-01 00:00:00pages
860-2issue
3eissn
0028-3878issn
1526-632Xjournal_volume
51pub_type
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