Molybdenum cofactor deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8410516.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities. Characteristic biochemical defects in affected individuals include hypouricemia, elevated urine sulfate (detectable by dipstick), and elevated S-sulfocysteine (detectable by anion exchange chromatography). This disorder should be considered in the differential diagnosis of neonatal seizures.
Medical subject headings
- Coenzymes
- Metabolism, Inborn Errors
- Metalloproteins
- Molybdenum
- Pteridines
- Seizures