Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

Ann B. Moser, Nancy Kreiter, Lena Bezman, Shou-En Lu, Gerald V. Raymond, Sakkubai Naidu, Hugo W. Moser

Research output: Contribution to journalArticle

224 Citations (Scopus)

Abstract

The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used procedure for the diagnosis of X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disorders. We present here our 17 years' experience with this assay. Three VLCFA parameters, the level of hexacosanoic acid (C26:0), the ratio of C26:0 to tetracosanoic acid (C24:0), and of C26:0 to docosanoic acid (C22:0), were measured in 1,097 males (hemizygotes) with X-ALD, 1,282 women heterozygous for this disorder, including 379 obligate heterozygotes, 797 patients with other peroxisomal disorders, and 29,600 control subjects. All X-ALD hemizygotes who had not previously received Lorenzo's oil or a diet with a high erucic acid content had increased VLCFA levels, but the application of a discriminant function based on all three measurements is required to avoid the serious consequences of a false-negative result. VLCFA levels are increased at day of birth, thus providing the potential for neonatal mass screening, are identical in the childhood and adult forms, and do not change with age. Eighty-five percent of obligate heterozygotes had abnormally high VLCFA levels, but a normal result does not exclude carrier status. VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl-coenzyme A oxidase, bifunctional enzyme, and 3-oxoacyl-coenzyme A thiolase. In these patients the degree of VLCFA excess correlated with clinical severity.

Original languageEnglish (US)
Pages (from-to)100-110
Number of pages11
JournalAnnals of Neurology
Volume45
Issue number1
DOIs
StatePublished - Jan 23 1999
Externally publishedYes

Fingerprint

Peroxisomes
Fatty Acids
Peroxisomal Disorders
Adrenoleukodystrophy
Hemizygote
Heterozygote
Infantile Refsum's Disease
Acetyl-CoA C-Acyltransferase
Zellweger Syndrome
Acyl-CoA Oxidase
Neonatal Screening
Mass Screening
Parturition
Diet
Enzymes

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Moser, Ann B. ; Kreiter, Nancy ; Bezman, Lena ; Lu, Shou-En ; Raymond, Gerald V. ; Naidu, Sakkubai ; Moser, Hugo W. / Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. In: Annals of Neurology. 1999 ; Vol. 45, No. 1. pp. 100-110.
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abstract = "The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used procedure for the diagnosis of X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disorders. We present here our 17 years' experience with this assay. Three VLCFA parameters, the level of hexacosanoic acid (C26:0), the ratio of C26:0 to tetracosanoic acid (C24:0), and of C26:0 to docosanoic acid (C22:0), were measured in 1,097 males (hemizygotes) with X-ALD, 1,282 women heterozygous for this disorder, including 379 obligate heterozygotes, 797 patients with other peroxisomal disorders, and 29,600 control subjects. All X-ALD hemizygotes who had not previously received Lorenzo's oil or a diet with a high erucic acid content had increased VLCFA levels, but the application of a discriminant function based on all three measurements is required to avoid the serious consequences of a false-negative result. VLCFA levels are increased at day of birth, thus providing the potential for neonatal mass screening, are identical in the childhood and adult forms, and do not change with age. Eighty-five percent of obligate heterozygotes had abnormally high VLCFA levels, but a normal result does not exclude carrier status. VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl-coenzyme A oxidase, bifunctional enzyme, and 3-oxoacyl-coenzyme A thiolase. In these patients the degree of VLCFA excess correlated with clinical severity.",
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Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. / Moser, Ann B.; Kreiter, Nancy; Bezman, Lena; Lu, Shou-En; Raymond, Gerald V.; Naidu, Sakkubai; Moser, Hugo W.

In: Annals of Neurology, Vol. 45, No. 1, 23.01.1999, p. 100-110.

Research output: Contribution to journalArticle

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AU - Kreiter, Nancy

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