Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD)
| Autor: | Herbert Budka, H. Bernheimer, P. Pilz, K. Toifl, Brunhilde Molzer |
|---|---|
| Rok vydání: | 1981 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities endocrine system medicine.medical_specialty endocrine system diseases Adult female Cholesterol nutritional and metabolic diseases Heterozygote advantage Very long chain Biology medicine.disease White matter chemistry.chemical_compound Myelin medicine.anatomical_structure Endocrinology Neurology chemistry Biochemistry Internal medicine Female patient medicine Adrenoleukodystrophy Neurology (clinical) |
| Zdroj: | Journal of the Neurological Sciences. 51:301-310 |
| ISSN: | 0022-510X |
| Popis: | Fatty acids of cholesterol esters were analyzed by gas chromatography in affected CNS white matter of 3 variants of ALD ("classical" ALD, atypical ALD (adult female) and AMN) and of 10 controls with myelin breakdown of an etiology other than ALD. In all 3 ALD variants a marked accumulation of very long chain fatty acids (VLFA) as compared to control material was observed. This was due to the accumulation mainly of saturated C24-C32 fatty acids, particularly of C26:0, C25:0 and, to a lesser extent, C24:0 and C27:0 fatty acids. Our results demonstrate for the first time an accumulation of VLFA in an adult female patient (atypical ALD), who probably is an ALD heterozygote rather than a variant of AMN, and confirm and extend earlier findings in classical ALD and AMN, respectively. It appears that ALD may be a single nosological entity with clinically and morphologically different variants sharing specific ultrastructural (accumulation of paired leaflets) and neuro-biochemical (accumulation of VLFA) diagnostic markers. |
| Databáze: | OpenAIRE |
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