title: 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.
authors.affiliation: Department of Pediatrics, University of Washington School of Medicine, Seattle, USA.
authors.forename: W D
authors.initials: WD
authors.lastname: Graf
authors.forename: O E
authors.initials: OE
authors.lastname: Oleinik
authors.forename: R M
authors.initials: RM
authors.lastname: Jack
authors.forename: A H
authors.initials: AH
authors.lastname: Weiss
authors.forename: J L
authors.initials: JL
authors.lastname: Johnson
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology; D001927:Brain Diseases / Q000097:blood / Q000175:diagnosis* / Q000378:metabolism; D003067:Coenzymes; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008659:Metabolic Diseases / Q000097:blood / Q000175:diagnosis* / Q000378:metabolism; D008667:Metalloproteins / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D011621:Pteridines / Q000378:metabolism*
chemical_list: D003067:Coenzymes; D006710:Homocysteine; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin