Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

Scotto, J; Hadchouel, Michelle; Odièvre, Marie‐Hélène; Laudat, M H; Saudubray, Jean‐Marie; Dulac, Olivier; Beucler, I.; Beaune, Philippe

doi:10.1007/bf01799998

Cited by 172 publications

(64 citation statements)

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“…We report here a pathway in which peroxisomes are directly responsible for the conversion of L-2-hydroxyphytanic acid into 2-oxophytanic acid. This finding may corroborate the hypothesis that peroxisomes play a role in phytanic acid catabolism as previously predicted from several inherited disorders [4,5] and from the experiments of Van den Branden et al [9]. The latter authors showed that administration of phytol, a precursor of phytanic acid, induces proliferation of peroxisomes and increases the activity of fatty acylCoA oxidase in mouse tissues.…”

Section: Discussionsupporting

confidence: 89%

Peroxisomal oxidation of L‐2‐hydroxyphytanic acid in rat kidney cortex

Draye

Hoof

Hoffmann

et al. 1987

European Journal of Biochemistry

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A previously unreported metabolite of mammalian phytanic acid catabolism, 2-oxophytanic acid, was identified by gas chromatography/mass spectrometry analysis. The formation of 2-oxophytanic acid was demonstrated to result from the oxidation of L-2-hydroxyphytanic acid, a reaction catalysed by a rat-kidney-cortex HZOz-generating oxidase. The pH optimum for the L-2-hydroxyphytanate oxidase activity was 8.5 and its apparent K , and V, were about 0.15 mM and 0.35 pmol min-' (g tissue)-', respectively. ~-2-Hydroxyisocaproate, a substrate of rat kidney L-a-hydroxyacid oxidase type B, inhibited the formation of 2-oxophytanate from L-2-hydroxyphytanic acid. Fractionation studies have indicated that 40% of L-2-hydroxyphytanate oxidase was associated with a particulate fraction and that the activity distribution of the oxidase closely paralleled that of catalase, a well known peroxisomal marker enzyme.

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Section: Discussionsupporting

confidence: 89%

Peroxisomal oxidation of L‐2‐hydroxyphytanic acid in rat kidney cortex

Draye

Hoof

Hoffmann

et al. 1987

European Journal of Biochemistry

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“…Infantile Refsum disease was first described in 1982 (Boltshauser et al 1982;Scotto et al 1982). The patients showed mental retardation, minor facial dysmorphia, retinitis pigrnentosa, failure to thrive and hypocholesterolaemia.…”

Section: Infantile Refsum Diseasementioning

confidence: 99%

Peroxisomal disorders in neurology

Wanders

Heymans

Schutgens

et al. 1988

Journal of the Neurological Sciences

171

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SUMMARYAlthough peroxisomes were initially believed to play only a minor role in mammalian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism. The metabolic pathways in which peroxisomes are involved include the biosynthesis of ether phospholipids and bile acids, the oxidation of very long chain fatty acids, prostaglandins and unsaturated long chain fatty acids and the catabolism of phytanate and (in man) pipecolate and glyoxylate.The importance of peroxisomes in cellular metabolism is stressed by the existence of a group of inherited diseases, the peroxisomal disorders, caused by an impairment in one or more peroxisomal functions. In the last decade our knowledge about peroxisomes and peroxisomal disorders has progressed enormously and has been the subject of several reviews. New developments include the identification of several additional peroxisomal disorders, the discovery of the primary defect in several of these peroxisomal disorders, the recognition of novel peroxisomal functions and the application of complementation analysis to obtain information on the genetic relationship between the different peroxisomal disorders.The peroxisomal disorders recognized at present comprise 12 different diseases, with neurological involvement in 10 of them. These diseases include: (1) those in which peroxisomes are virtually absent leading to a generalized impairment of peroxisomal functions (the cerebro-hepato-renal syndrome of Zellweger, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidaemia); (2) those in which peroxisomes are present and several peroxisomal functions are impaired (the rhizomelic form of chondrodysplasia punctata, combined peroxisomal fl-oxidation enzyme protein deficiency); and (3)those in which peroxisomes are present and only a single peroxisomal function is impaired (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency (pseudo-Zellweger syndrome), acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy) and probably, the classic form of Refsum disease.

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“…1 The IRD phenotype is considered to be the least severe form of ZS. 1 First described by Scotto et al in 1982, 3 IRD manifests in the first 6 months of age with severe visual impairment caused by tapetoretinal degeneration, neurologic abnormalities, developmental delays, mental retardation, sensorineural deafness, anosmia, hepatomegaly, bleeding episodes, and facial dysmorphism. In contrast to ZS and neonatal abstract Infantile Refsum disease (IRD) is a rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction, including accumulation of very long-chain fatty acids (VLCFAs) and phytanic acid (PA), as well as decreased plasmalogen contents (PL).…”

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confidence: 99%

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

et al. 2016

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Infantile Refsum disease (IRD) is a rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction, including accumulation of very long-chain fatty acids (VLCFAs) and phytanic acid (PA), as well as decreased plasmalogen contents (PL). An effective therapy for this intractable disease has not been established, and only supportive management with docosahexaenoic acid supplementation and low PA diet has been reported so far. A boy of 3 years and 8 months presented with facial dysmorphism, transaminitis, and psychomotor retardation. Biochemical analysis showed elevated PA and VLCFAs, with reduced PL in the serum. Immunofluorescence study of fibroblasts from the patient indicated a mosaic pattern of catalase-positive and -negative particles, and molecular analysis revealed compound heterozygous mutations of PEX6. The failure of medical management to prevent the progression of clinical symptoms and abnormal biochemistry prompted us to consider liver transplantation (LT). With the chances of receiving a deceased donor liver being poor, we performed a living-donor LT from the patient’s heterozygous mother. At 6-month follow-up, the patient’s serum PA levels had normalized. VLCFAs and PL levels had declined and increased, respectively. To the best of our knowledge, this is the second reported case in which IRD was treated by living-donor LT by using a heterozygous donor. Only long-term follow-up will reveal if there is any clinical improvement in the present case. With the liver being a major site for peroxisomal pathways, its replacement by LT may work as a form of partial enzyme therapy for patients with IRD.

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Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

Cited by 172 publications

References 20 publications

Peroxisomal oxidation of L‐2‐hydroxyphytanic acid in rat kidney cortex

Peroxisomal oxidation of L‐2‐hydroxyphytanic acid in rat kidney cortex

Peroxisomal disorders in neurology

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

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