A new defect of peroxisomal function involving pristanic acid: a case report

McLean, Brendan; Allen, John T.; Ferdinandusse, Sacha; Wanders, Ronald J. A.

doi:10.1136/jnnp.72.3.396

Cited by 26 publications

(24 citation statements)

References 18 publications

(7 reference statements)

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“…Values are mean ± standard deviation for five to nine independent experiments (animals) per group and expressed as pmol CO 2 h -1 g tissue -1 . *P \ 0.05 and **P \ 0.01 compared to control (Duncan multiple range test) predominant [3,6,8]. The pathogenesis of these disorders is poorly established, although it could be presumed that this fatty acid is neurotoxic.…”

Section: Discussionmentioning

confidence: 98%

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Neurochemical Evidence that Pristanic Acid Impairs Energy Production and Inhibits Synaptic Na+, K+-ATPase Activity in Brain of Young Rats

et al. 2011

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Pristanic acid (Prist) accumulates in some peroxisomal disorders characterized by neurologic dysfunction and brain abnormalities. The present work investigated the in vitro effects of Prist on important parameters of energy metabolism in brain cortex of young rats. CO(2) production from labeled acetate and the activities of the respiratory chain complexes I-IV, creatine kinase and synaptic Na(+), K(+)-ATPase were measured. Prist decreased CO(2) production and the activities of complexes I, II and II-III. Prist also reduced Na(+), K(+)-ATPase activity, but did not affect the activity of creatine kinase. Considering the importance of the citric acid cycle and the electron flow through the respiratory chain for brain energy production and of Na(+), K(+)-ATPase for the maintenance of membrane potential, the present data indicate that Prist compromises brain bioenergetics and neurotransmission. It is presumed that these pathomechanisms may be involved in the neurological damage found in patients affected by disorders in which Prist accumulates.

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Section: Discussionmentioning

confidence: 98%

“…AMACR deficiency has been described in several patients, mainly adults with a late-onset sensorimotor neuropathy, epilepsy, encephalopathy, pyramidal tract signs and migraine [4][5][6][7][8]. AMACR deficiency can also appear in the neonatal period with coagulopathy and mild cholestasis due to bile acid abnormalities [9].…”

Section: Introductionmentioning

confidence: 99%

Neurochemical Evidence that Pristanic Acid Impairs Energy Production and Inhibits Synaptic Na+, K+-ATPase Activity in Brain of Young Rats

et al. 2011

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“…The reason for clinical relapses is unclear, although oxidative stresses, such as minor surgeries, may precipitate the release of pristanic acid from tissue stores. 6 Two infants presented with abnormal bile acid synthesis and liver failure. 4,5 This bimodal age distribution is typical of most peroxisomal disorders, where patients present either shortly after birth or later in adulthood.…”

Section: Case Reportmentioning

confidence: 99%

“…[2][3][4][5][6] Although each patient exhibited different clinical features, neurologic symptoms including seizures, peripheral neuropathy, altered mental status, and relapsing encephalitis were common among the adults. The reason for clinical relapses is unclear, although oxidative stresses, such as minor surgeries, may precipitate the release of pristanic acid from tissue stores.…”

Section: Case Reportmentioning

confidence: 99%

FUNDUS FINDINGS IN a PATIENT WITH Α-Methlyacyl-Coa RACEMASE DEFICIENCY

Stewart¹,

Vavra²,

Whaley³

2011

RETINAL Cases &Amp; Brief Reports

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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%