Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele.
Clin Biochem
; 30(4): 325-31, 1997 Jun.
Article
em En
| MEDLINE
| ID: mdl-9209791
ABSTRACT
OBJECTIVE:
Use of sulfatide excretion in differentiating MLD/PD-heterozygotes from MLD-patients and PD/PD-homozygotes. DESIGN ANDMETHODS:
Sulfatide was extracted from urine sediment with chlorotom/methanol (21, v/v). The quantity of sulfatide was measured densitometrically (lambda = 580 nm) after thin-layer chromatography. ASA and beta-galactosidase activities were assayed enzymatically.RESULTS:
MLD/PD-heterozygotes excreted sulfatide in the range of 4.8-36.3 nmol/mg lipid (mean +/- SD = 17.8 +/- 10.7), whereas sulfatide in MLD-patients ranged from 74.3-411.6 nmol/mg lipid (mean +/- SD = 184.5 +/- 130.8) and in PD/PD-hormozygotes sulfatide excretion remained in normal range of 0.0-5.9 nmol/mg lipid (mean +/- SD = 1.64 +/- 2.12). ASA activities in these groups were very low or lowered.CONCLUSIONS:
The quantitative measurement of sulfatide in urine allows differentiation between MLD/PD-heterozygotes and MLD-heterozygotes, as well as between MLD/PD-heterozygotes with very low ASA activity and MLD-patients or PD/PD-hormozygotes. The quantitative measurement of sulfatide in urine differs between MLD-carriers and controls.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sulfoglicoesfingolipídeos
/
Cerebrosídeo Sulfatase
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Heterozigoto
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Leucodistrofia Metacromática
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
Idioma:
En
Revista:
Clin Biochem
Ano de publicação:
1997
Tipo de documento:
Article