Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are autosomal recessive inborn errors of metabolism with severe neurological symptoms resulting from a lack of sulfite oxidase activity. The deficiencies can be diagnosed prenatally by monitoring sulfite oxidase activity in chorionic villus sampling (CVS) tissue. In those families in which the specific defects have been identified, diagnosis can be achieved by mutation analysis or linkage studies directed at affected genes. These include MOCS1, MOCS2 or GEPH, in cases of molybdenum cofactor deficiency, or SUOX in patients with isolated sulfite oxidase deficiency.
Johnson
Jean L
JL
Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA. jean_johnson@biochem.duke.edu
D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins / Q000235:genetics; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D003067:Coenzymes; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008667:Metalloproteins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D000090006:Molybdenum Cofactors; D009687:Nuclear Proteins / Q000235:genetics; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011621:Pteridines / Q000378:metabolism; D013466:Sulfurtransferases / Q000235:genetics
D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins; D003067:Coenzymes; D008565:Membrane Proteins; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D009687:Nuclear Proteins; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D013466:Sulfurtransferases; C073441:gephyrin; C022261:molybdopterin; C085585:molybdopterin synthase; C114840:MOCS1 protein, human