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Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S257-62. Date of Electronic Publication: 2010 Jul 02. - Publication Year :
- 2010
-
Abstract
- Metachromatic leukodystrophy (MLD) is a lysosomal disorder caused by arylsulfatase A (ARSA) deficiency. It is classified into three forms according to the age of onset of symptoms (late infantile, juvenile, and adult). We carried out a cross-sectional and retrospective study, which aimed to determine the epidemiological, clinical, and biochemical profile of MLD patients from a national reference center for Inborn Errors of Metabolism in Brazil. Twenty-nine patients (male, 17) agreed to participate in the study (late infantile form: 22; juvenile form: 4; adult form: 1; asymptomatic: 2). Mean ages at onset of symptoms and at biochemical diagnosis were, respectively, 19 and 39 months for late infantile form and 84.7 and 161.2 months for juvenile form. The most frequently reported first clinical symptom/sign of the disease was gait disturbance and other motor abnormalities (72.7%) for late infantile form and behavioral and cognitive alterations (50%) for juvenile form. Leukocyte ARSA activity level did not present significant correlation with the age of onset of symptoms (r = -0.09, p = 0.67). Occipital white matter and basal nuclei abnormalities were not found in patients with the late infantile MLD. Our results suggest that there is a considerable delay between the age of onset of signs and symptoms and the diagnosis of MLD in Brazil. Correlation between ARSA activity and MLD clinical form was not found. Further studies on the epidemiology and natural history of this disease with larger samples are needed, especially now when specific treatments should be available in the near future.
- Subjects :
- Adolescent
Age of Onset
Biomarkers blood
Biomarkers urine
Brazil epidemiology
Cerebroside-Sulfatase blood
Child
Child, Preschool
Cross-Sectional Studies
Diagnostic Techniques, Ophthalmological
Disease Progression
Electroencephalography
Eye Diseases diagnosis
Eye Diseases enzymology
Eye Diseases epidemiology
Female
Gait Disorders, Neurologic diagnosis
Gait Disorders, Neurologic enzymology
Gait Disorders, Neurologic epidemiology
Humans
Infant
Leukodystrophy, Metachromatic drug therapy
Leukodystrophy, Metachromatic enzymology
Leukodystrophy, Metachromatic epidemiology
Leukoencephalopathies diagnosis
Leukoencephalopathies enzymology
Leukoencephalopathies epidemiology
Magnetic Resonance Imaging
Male
Mental Disorders diagnosis
Mental Disorders enzymology
Mental Disorders epidemiology
Predictive Value of Tests
Prognosis
Retrospective Studies
Sulfoglycosphingolipids urine
Time Factors
Young Adult
Cerebroside-Sulfatase deficiency
Leukocytes enzymology
Leukodystrophy, Metachromatic diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2665
- Volume :
- 33 Suppl 3
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 20596894
- Full Text :
- https://doi.org/10.1007/s10545-010-9140-4