Ahomocysteinemia in molybdenum cofactor deficiency.

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

Neurology

journal_title

Neurology

authors

Graf WD,Oleinik OE,Jack RM,Weiss AH,Johnson JL

doi

10.1212/wnl.51.3.860

subject

Has Abstract

pub_date

1998-09-01 00:00:00

pages

860-2

issue

3

eissn

0028-3878

issn

1526-632X

journal_volume

51

pub_type

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