X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Kennedy, C R; Allen, J. T.; Fensom, Anthony H.; Steinberg, Steven J.; Wilson, Robert

doi:10.1136/jnnp.57.6.759

Cited by 25 publications

(13 citation statements)

References 7 publications

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“…Over the recent years it has become increasingly clear though, that cases exist where VLCFA and/or other peroxisomal metabolites can be normal in spite of the existence of peroxisomal disease. This has been reported for PBD patients [Gootjes et al, 2004;Wanders and Waterham, 2004;Zeharia et al, 2007], a patient with X-linked adrenoleukodystrophy [Kennedy et al, 1994], a patient with acyl-CoA oxidase deficiency [Rosewich et al, 2006], and patients with DBPD [Soorani-Lunsing et al, 2005;Ferdinandusse et al, 2006a]. In the latter study 3 out of 53 patients did not show elevated plasma VLCFA or other abnormalities of plasma peroxisomal metabolites.…”

Section: Discussionsupporting

confidence: 54%

Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Grønborg

Krätzner

Spiegler

et al. 2010

American J of Med Genetics Pt A

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D-bifunctional protein deficiency (DBPD) is an autosomal recessive disease caused by a defect in peroxisomal β-oxidation. The majority of patients suffer from a severe neurological disease with neonatal hypotonia and seizures and die within the first 2 years of life. Few patients show milder clinical phenotypes with prolonged survival. The diagnosis relies on the clinical presentation, measurement of peroxisomal markers, including very long chain fatty acids (VLCFA) in plasma, followed by enzymatic studies in fibroblasts and genetic testing. Diagnosis can be difficult to establish in milder cases, especially if VLCFA concentration in plasma is not or only mildly elevated. We report on siblings in which initial measurement of plasma VLCFA did not indicate a peroxisomal disease. Nevertheless, cMRI showed a pattern typical for an inborn peroxisomal disease with cerebral and cerebellar leukencephalopathy, perisylvic polymicrogyria, and frontoparietal pachygyria. Repeated measurements of peroxisomal metabolites in plasma prompted by the cMRI findings showed values in the upper normal or mildly elevated range and led to further diagnostic steps. The diagnosis of a type III DBPD with a missense mutation (T15A) in the HSD17B4 gene, coding for D-bifunctional protein (DBP), could be established. We conclude that a typical "peroxisomal pattern" in cMRI including cerebral and cerebellar leukencephalopathy, perisylvic polymicrogyria and pachygyria is a valuable clue to the diagnosis of DBPD, especially in cases with no or only very mild abnormalities in plasma.

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Section: Discussionsupporting

confidence: 54%

Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Grønborg

Krätzner

Spiegler

et al. 2010

American J of Med Genetics Pt A

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“…VLCFA accumulation is a common trait of the peroxisomal biogenesis disorders such as Zellweger syndrome and other peroxisomal deficiencies but these disorders can easily be distinguished [92,368]. Indeed, false-negative results have been reported in X-ALD hemizygotes [369,370]. Exceptions are 0.1% of affected males where VLCFA levels are at the borderline of the healthy subjects.…”

Section: Biochemical Diagnosismentioning

confidence: 99%

“…For this reason, when X-ALD is suspected, the next step is to perform mutation analysis of ABCD1 to confirm the diagnosis. Overlaps between X-ALD and controls have been reported for X-ALD hemizygotes when each of the 3 parameters is considered in isolation [369,370]. The most common and sensitive screening test for X-ALD consists in measuring the concentration of C26:0 as well as the C26:0/C22:0 ratio and C24:0/C22:0 ratio from a sample of plasma [10].…”

Section: H a P T E Rmentioning

confidence: 99%

X-linked Adrenoleukodystrophy

Trompier¹,

Savary²

2013

Colloquium Series on the Genetic Basis of Human Disease

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“…99 In these patients diagnosis was finally established by elevated concentrations of VLCFAs in cultured skin fibroblasts, and abnormal plasma VLCFA concentrations in one of the mothers.…”

Section: Diagnosismentioning

confidence: 99%

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

Geel

Assies

Wanders

et al. 1997

Journal of Neurology, Neurosurgery & Psychiatry

139

100

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X linked adrenoleukodystrophy (X-ALD)is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insuYciency. The lowest estimated birth incidence is one per 100 000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy. The X-ALD gene has been identified, but thus far no relation between genotype and phenotype has been found. Diagnosis is relatively easy and can be confirmed reliably, and prenatal testing is possible in aVected families. Several therapeutic options, some with promising perspectives, are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD. In this review, the clinical presentation, the relative frequencies of the diVerent phenotypes, and the diagnostic and therapeutic options are presented.

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X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Cited by 25 publications

References 7 publications

Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma

X-linked Adrenoleukodystrophy

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

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