Ahomocysteinemia in molybdenum cofactor deficiency.
case_report · Level V
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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.
Medical subject headings
- Brain
- Brain Diseases
- Coenzymes
- Homocysteine
- Metabolic Diseases
- Metalloproteins
- Pteridines