title: D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
abstract: Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense mutation R106P and a 52bp deletion in the gene for a peroxisomal beta-oxidation enzyme, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase, D-bifunctional protein. The patient had psychomotor retardation and craniofacial dysmorphism and died at 7 months of age. The patient had atypical fetal manifestations of this enzyme deficiency.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nakano
authors.forename: Z
authors.initials: Z
authors.lastname: Zhang
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: N
authors.initials: N
authors.lastname: Ishii
authors.forename: M
authors.initials: M
authors.lastname: Funatsuka
authors.forename: S
authors.initials: S
authors.lastname: Shirakawa
authors.forename: M
authors.initials: M
authors.lastname: Itoh
authors.forename: S
authors.initials: S
authors.lastname: Takashima
authors.forename: M
authors.initials: M
authors.lastname: Une
authors.forename: R R
authors.initials: RR
authors.lastname: Kana-aki
authors.forename: K
authors.initials: K
authors.lastname: Mukai
authors.forename: M
authors.initials: M
authors.lastname: Osawa
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D002915:Chylous Ascites / Q000150:complications* / Q000151:congenital* / Q000235:genetics; D003286:Contracture / Q000150:complications* / Q000151:congenital* / Q000235:genetics; D004746:Enoyl-CoA Hydratase; D017809:Fatal Outcome; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications* / Q000235:genetics; D017353:Gene Deletion; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D064029:Peroxisomal Multifunctional Protein-2; D006831:Polyhydramnios / Q000150:complications*; D011247:Pregnancy
chemical_list: D009097:Multienzyme Complexes; D015067:17-Hydroxysteroid Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human; D004746:Enoyl-CoA Hydratase