The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and other conditions with low leucocyte arylsulphatase A activities.
The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because one of the parents also had low ADA-activity or because the obligatory information about the ASA-activity of the parents could not be obtained. In these cases sural nerve biopsy provided essential diagnostic information, correcting one false negative and two false positive diagnoses of clinical MLD.
D000293:Adolescent; D001706:Biopsy; D002553:Cerebroside-Sulfatase / Q000378:metabolism*; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000473:pathology; D004796:Clinical Enzyme Tests; D005260:Female; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D013127:Spinal Nerves / Q000473:pathology*; D013429:Sulfatases / Q000378:metabolism*; D013497:Sural Nerve / Q000473:pathology*
D013429:Sulfatases; D002553:Cerebroside-Sulfatase