Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
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.
Gümüş
Hakan
H
Department of Pediatric Neurology, Erciyes University Medical Faculty, Kayseri, Turkey.
Ghesquiere
Stijn
S
Per
Hüseyin
H
Kondolot
Meda
M
Ichida
Kimiyoshi
K
Poyrazoğlu
Gamze
G
Kumandaş
Sefer
S
Engelen
John
J
Dundar
Munis
M
Cağlayan
Ahmet Okay
AO
D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins / Q000235:genetics; D003067:Coenzymes / Q000172:deficiency*; D002658:Developmental Disabilities / Q000235:genetics; D005247:Feeding Behavior; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008667:Metalloproteins / Q000172:deficiency*; D008831:Microcephaly / Q000235:genetics; D000090006:Molybdenum Cofactors; D009035:Mothers; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011621:Pteridines; D012640:Seizures / Q000188:drug therapy / Q000235:genetics; D013466:Sulfurtransferases / Q000235:genetics; D024182:Uniparental Disomy
D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins; D003067:Coenzymes; D008565:Membrane Proteins; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D009687:Nuclear Proteins; D011621:Pteridines; D013466:Sulfurtransferases; C073441:gephyrin; C022261:molybdopterin; C085585:molybdopterin synthase; C114840:MOCS1 protein, human