Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency


GÜMÜŞ H. , Ghesquiere S., Per H. , KONDOLOT M. , ICHIDA K., POYRAZOĞLU G., et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, cilt.52, ss.868-872, 2010 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 52 Konu: 9
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1111/j.1469-8749.2010.03724.x
  • Dergi Adı: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
  • Sayfa Sayısı: ss.868-872

Özet

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.