Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.

Jean L Johnson

Journal: Prenatal diagnosis 2003;23(1):6-8

PMID: 12533804

Abstract

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.

Address: Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA. [email protected]

DOI: 10.1002/pd.505

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MeSH Terms: Adult, Brain Diseases, Metabolic, Inborn, Carbon-Carbon Lyases, Carrier Proteins, Chorionic Villi, Chorionic Villi Sampling, Coenzymes, DNA Mutational Analysis, Female, Genetic Linkage, Humans, Membrane Proteins, Metalloproteins, Molybdenum Cofactors, Nuclear Proteins, Oxidoreductases Acting on Sulfur Group Donors, Pregnancy, Pteridines, Sulfurtransferases