Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

Poulos, A.; Sharp, P.; Whiting, Malcolm J.

doi:10.1111/j.1399-0004.1984.tb01107.x

Cited by 127 publications

(5 citation statements)

References 25 publications

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“…With regard to liver pathology, infants can present with jaundice and hepatomegaly. Liver damage resulting in cirrhosis was also reported [12,13]. Impaired bile acid production (see below) may also cause malabsorption of Vitamin K leading to intracranial bleeding [14].…”

Section: Accepted Manuscriptmentioning

confidence: 91%

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Hepatic dysfunction in peroxisomal disorders

Baes

Veldhoven

2016

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

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The peroxisomal compartment in hepatocytes hosts several essential metabolic conversions. These are defective in peroxisomal disorders that are either caused by failure to import the enzymes in the organelle or by mutations in the enzymes or in transporters needed to transfer the substrates across the peroxisomal membrane. Hepatic pathology is one of the cardinal features in disorders of peroxisome biogenesis and peroxisomal β-oxidation although it only rarely determines the clinical fate. In mouse models of these diseases liver pathologies also occur, although these are not always concordant with the human phenotype which might be due to differences in diet, expression of enzymes and backup mechanisms. Besides the morphological changes, we overview the impact of peroxisome malfunction on other cellular compartments including mitochondria and the ER. We further focus on the metabolic pathways that are affected such as bile acid formation, and dicarboxylic acid and branched chain fatty acid degradation. It appears that the association between deregulated metabolites and pathological events remains unclear.

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Section: Accepted Manuscriptmentioning

confidence: 91%

“…Disregarding young patients, diagnosed originally as Refsum, but later on classified as infantile Refsum disease[12,53].…”

mentioning

confidence: 99%

Hepatic dysfunction in peroxisomal disorders

Baes

Veldhoven

2016

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

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“…It was not until 1973 that the causal link between ZS and peroxisomes was made, when Goldfischer et al described the absence of peroxisomes in hepatocytes and renal proximal tubules [ 10 ]. Although the clinical presentation is different, the discovery of similar biochemical abnormalities revealed that the earlier described entities infantile Refsum disease and neonatal adrenoleukodystrophy were also peroxisomal disorders [ 11 , 12 ]. Based on these findings, peroxisomes which were once considered unimportant organelles, were now connected to a group of diseases and became the object of intensive scientific investigations.…”

Section: History and Definitionmentioning

confidence: 99%

Zellweger spectrum disorders: clinical overview and management approach

Klouwer

Berendse

Ferdinandusse

et al. 2015

Orphanet J Rare Dis

186

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Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.

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“…Apart from Z S , two other rare peroxiso-ma1 disorders with a general peroxisomal dysfunction have been recognised, i.e. neonatal adrenoleukodystrophy (Benke et al 1981, Jaffe et al 1982) and infantile Refsum disease (Scotto et al 1982, Poulos et al 1984. Patients with these diseases may survive until the second decade.…”

Section: Discussionmentioning

confidence: 99%

Long term survival of a patient with the cerebro‐hepato‐renal (Zellweger) syndrome

et al. 1986

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A 13‐year‐old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described. In early life the diagnosis of Zellweger (cerebro‐hepato‐renal) syndrome was considered because of hypotonia, craniofacial dysmorphia, abnormal liver functions and pipecolic aciduria. Biochemical studies in fibroblasts from the patient revealed a general peroxisomal dysfunction comparable to the findings in Zellweger Syndrome. As the clinical presentation of this patient is essentially different from that in classical Zellweger patients, who usually die early in life, we recommend the study of peroxisomal functions in all patients with severe mental retardation, tapetoretinal degeneration and sensoneurinal hearing loss.

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Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

Cited by 127 publications

References 25 publications

Hepatic dysfunction in peroxisomal disorders

Hepatic dysfunction in peroxisomal disorders

Zellweger spectrum disorders: clinical overview and management approach

Long term survival of a patient with the cerebro‐hepato‐renal (Zellweger) syndrome

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