Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency
| Autor: | Hakan, Gümüş, Stijn, Ghesquiere, Hüseyin, Per, Meda, Kondolot, Kimiyoshi, Ichida, Gamze, Poyrazoğlu, Sefer, Kumandaş, John, Engelen, Munis, Dundar, Ahmet Okay, Cağlayan |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Developmental Disabilities Pteridines Coenzymes Infant Membrane Proteins Mothers Nuclear Proteins Feeding Behavior Uniparental Disomy Polymorphism Single Nucleotide Seizures Sulfurtransferases Metalloproteins Microcephaly Humans Female Carbon-Carbon Lyases Carrier Proteins Molybdenum Cofactors Metabolism Inborn Errors |
| Zdroj: | Developmental medicine and child neurology. 52(9) |
| ISSN: | 1469-8749 |
| Popis: | Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy. |
| Databáze: | OpenAIRE |
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