Relapsing encephalopathy in a patient with  -methylacyl-CoA racemase deficiency

Thompson, Sian; Calvin, J.; Hogg, Sarah; Ferdinandusse, Sacha; Wanders, Ronald J. A.; Barker, Roger A.

doi:10.1136/bcr.08.2008.0814

Cited by 16 publications

(20 citation statements)

References 7 publications

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“…AMACR converts 2R‐pristanic acid, 25R‐DHCA and 25R‐THCA to their S‐configuration, prior to their passage through the peroxisomal β‐oxidation pathway. Most AMACR‐deficient patients are asymptomatic until adolescence where after they start showing symptoms similar to those observed in Refsum disease patients . Cerebellar dysfunction was only seen in two out of ten patients .…”

Section: Peroxisomal β‐Oxidation Disordersmentioning

confidence: 72%

Peroxisomal Disorders: A Review on Cerebellar Pathologies

Munter

Verheijden

Régal³

et al. 2015

Brain Pathology

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Peroxisomes are organelles with diverse metabolic tasks including essential roles in lipid metabolism. They are of utmost importance for the normal functioning of the nervous system as most peroxisomal disorders are accompanied with neurological symptoms. Remarkably, the cerebellum exquisitely depends on intact peroxisomal function both during development and adulthood. In this review, we cover all aspects of cerebellar pathology that were reported in peroxisome biogenesis disorders and in diseases caused by dysfunction of the peroxisomal α-oxidation, β-oxidation or ether lipid synthesis pathways. We also discuss the phenotypes of mouse models in which cerebellar pathologies were recapitulated and search for connections with the metabolic abnormalities. It becomes increasingly clear that besides the most severe forms of peroxisome dysfunction that are associated with developmental cerebellar defects, milder impairments can give rise to ataxia later in life.

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Section: Peroxisomal β‐Oxidation Disordersmentioning

confidence: 72%

Peroxisomal Disorders: A Review on Cerebellar Pathologies

Munter

Verheijden

Régal³

et al. 2015

Brain Pathology

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“…These include developmental delay, epilepsy, acute encephalopathy, tremor, pigmentary retinopathy, hemiparesis, spastic paraparesis, peripheral neuropathy, depression, headache, and cognitive decline. One female presented at age 13 with epilepsy and a postictal confusional state and had no further symptoms for 5 years 77 . Elevation of plasma pristanic acid is a diagnostic clue.…”

Section: Metabolic Epilepsies Of Late Childhood and Adolescencementioning

confidence: 99%

Inborn errors of metabolism causing epilepsy

Rahman

Footitt

Varadkar

et al. 2012

Develop Med Child Neuro

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Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine‐dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy. This review concentrates on those IEMs for which specific treatment is available. The common metabolic causes of seizures vary according to the age at presentation. Features from the history, examination, imaging, and first line biochemical investigations can all provide clues to an inborn error. This review attempts to delineate these and to provide a guide to the specific tests that can be used to make the diagnosis of disorders with specific treatment.

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“…Subsequent genetic analysis ( 86 ) showed a mutation in AMACR . Presently, seven patients have been described in the literature ( 86,(212)(213)(214)(215)(216). It cannot be excluded that older descriptions of cases with bile acid abnormalities represent AMACR defi ciency.…”

Section: Mfp2 Defi Ciencymentioning

confidence: 99%