Diagnosis of peroxisomal disorders with neurological involvement.

[neonatal adrenoleukodystrophy]

Peroxisomal disorders are a group of inherited metabolic diseases caused by impairment of one or more peroxisomal functions . Ten disorders with neurological involvement have been recognized . Diagnosis and differentiation of these disorders is based on a number of important biochemical markers . For all disorders elevated values of very long chain fatty acids (VLCFA ) and /or phytanic acid (PHYT ) are important primary diagnostic parameters . Our results with regard to these two diagnostic markers are presented . VLCFA determined by gaschromatography in 414 samples (plasma , leukocytes or fibroblasts respectively ) revealed increased values of hexacosanoic acid in 30 hemizygotes and 10 heterozygotes of adrenoleukodystrophy /adrenomyeloneuropathy and in eight infants with Zellweger disease or neonatal adrenoleukodystrophy . 15 cases with peroxisomal disorders were detected by VLCFA analysis in autopsy material . Gaschromatographic analysis of PHYT in plasma showed in some patients with Zellweger disease or neonatal adrenoleukodystrophy increase . In seven Refsum patients beside gaschromatographic demonstration of PHYT accumulation in plasma , analysis of plasma phytanyltriglycerides by thin -layer chromatography proved to be a rapid and reliable method for detection of patients and monitoring dietary treatment .

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Diseases presenting "analysis of plasma phytanyltriglycerides by thin-layer chromatography proved to be a rapid and reliable method for detection of patients and monitoring dietary treatment" symptom

neonatal adrenoleukodystrophy

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