title: The association of molybdenum cofactor deficiency and pyloric stenosis.
abstract: Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures. Co-existence of MoCD and pyloric stenosis is previously reported as a coincidence or common etiology. The etiology of the two conditions is unclear; however, reports demonstrate neuronal deficiency in both. We report a neonate who was diagnosed with MoCD and hypertrophic pyloric stenosis.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Akdeniz University Medical School, Antalya, Turkey. gonultezel@hotmail.com
authors.forename: G
authors.initials: G
authors.lastname: Tezel
authors.forename: O
authors.initials: O
authors.lastname: Oztekin
authors.forename: S
authors.initials: S
authors.lastname: Kalay
authors.forename: A
authors.initials: A
authors.lastname: Aslan
authors.forename: M
authors.initials: M
authors.lastname: Akçakuş
authors.forename: N
authors.initials: N
authors.lastname: Oygür
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008664:Metal Metabolism, Inborn Errors / Q000453:epidemiology*; D008983:Molybdoferredoxin; D011596:Psychomotor Disorders / Q000453:epidemiology; D046248:Pyloric Stenosis, Hypertrophic / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000378:metabolism; D014463:Ultrasonography
chemical_list: D008983:Molybdoferredoxin