Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.
We describe the main clinical and biochemical findings in 15 patients with peroxisomal disorders, together with the results of 11 prenatal investigations for Zellweger syndrome. The initial laboratory diagnosis depended in most cases on demonstration of elevated very long chain fatty acids in plasma, but follow-up studies using cultured fibroblasts were essential for complete classification. The patient group comprises nine cases of Zellweger syndrome, one of neonatal adrenoleucodystrophy, two of infantile Refsum disease, one of bifunctional protein deficiency, and two of rhizomelic chondrodysplasia punctata. The study illustrates the clinical and biochemical variability of this group of patients and the detailed studies that are required for classification.
Division of Medical and Molecular Genetics, United Medical and Dental Schools of Guy's and St. Thomas's Hospitals (UMDS), London, United Kingdom.
S J
SJ
Steinberg
N
N
Elçioglu
C M
CM
Slade
A
A
Sankaralingam
N
N
Dennis
S N
SN
Mohammed
A H
AH
Fensom
D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D010641:Phenotype; D010831:Phytanic Acid / Q000097:blood; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D015211:Zellweger Syndrome / Q000175:diagnosis / Q000196:embryology / Q000235:genetics
D010831:Phytanic Acid