Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of peroxisomal beta-oxidation enzyme and rhizomelic type chondrodysplasia punctata were investigated by means of the lignoceric acid oxidation assay, indirect immunofluorescence staining and pulse-chase experiments, using cultured amniocytes. Assessment of peroxisomal beta-oxidation activity by means of [1-14C]lignoceric acid oxidation is essential for the diagnosis of a single enzyme deficiency of peroxisomal beta-oxidation with detectable enzyme protein. For the diagnosis of Zellweger syndrome, the absence of peroxisomes was readily determined by immunofluorescence staining of only a few amniocytes. Evidence for abnormal processing of 3-ketoacyl-CoA thiolase leads to the diagnosis of rhizomelic chondrodysplasia punctata. All the fetuses were considered to be normal and the neonates were normal. Use of these methods requires only a small number of amniocytes and will facilitate the prenatal diagnosis of peroxisomal disorders.
Suzuki
Y
Y
Department of Pediatrics, Gifu University School of Medicine, Japan.
Shimozawa
N
N
Kawabata
I
I
Yajima
S
S
Inoue
K
K
Uchida
Y
Y
Izai
K
K
Tomatsu
S
S
Kondo
N
N
Orii
T
T
D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000378:metabolism*; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D008830:Microbodies / Q000378:metabolism*; D010084:Oxidation-Reduction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015211:Zellweger Syndrome / Q000175:diagnosis
D005227:Fatty Acids; D000102:Acetyl-CoA C-Acyltransferase; C010210:lignoceric acid