D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
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.
Nakano
K
K
Department of Pediatrics, Tokyo Women's Medical University, Japan.
Zhang
Z
Z
Shimozawa
N
N
Kondo
N
N
Ishii
N
N
Funatsuka
M
M
Shirakawa
S
S
Itoh
M
M
Takashima
S
S
Une
M
M
Kana-aki
R R
RR
Mukai
K
K
Osawa
M
M
Suzuki
Y
Y
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
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