Refsum disease

Ref·sum dis·ease

(ref'sūm), [MIM*266500]

a rare degenerative disorder due to a deficiency of phytanic acid α-hydroxylase; clinically characterized by retinitis pigmentosa, ichthyosis, demyelinating polyneuropathy, deafness, and cerebellar signs; autosomal recessive inheritance caused by mutation in the gene encoding phytanoyl-CoA hydroxylase (PAHX or PHYH) on chromosome 10p. Infantile Refsum disease [MIM*266510] is an impaired peroxisomal function with accumulation of phytanic acid, pipecolic acid; autosomal recessive inheritance, caused by mutation in the PEX 1 gene on 7q.

Synonym(s): heredopathia atactica polyneuritiformis, Refsum syndrome

Refsum disease

(rĕf′səm)

A rare autosomal recessive disorder in which an enzyme deficiency causes accumulation of phytanic acid in tissues, leading to retinitis pigmentosa, anosmia, and often ataxia, polyneuropathy, and other conditions.

Ref·sum dis·ease

(ref'sŭm di-zēz')

A rare degenerative disorder due to a deficiency of phytanic acid α-hydroxylase; clinically characterized by retinitis pigmentosa, ichthyosis, demyelinating polyneuropathy, deafness, and cerebellar signs; autosomal recessive inheritance caused by mutation in the gene encoding phytanoyl-CoA hydroxylase (PAHX or PAYH) on chromosome 10p. Infantile Refsum disease is an impaired peroxisomal function with accumulation of phytanic acid and pipecolic acid; autosomal recessive inheritance caused by mutation in the PEX 1 gene on 7q.

Refsum,

Sigvald, Bernhard Norwegian neurologist, 1907-1991.

Refsum disease - a rare hereditary degenerative disorder characterized by retinitis pigmentosa, demyelinating polyneuropathy, deafness, nystagmus, and cerebellar signs. Synonym(s): heredopathia atactica polyneuritiformis; Refsum syndrome

Refsum syndrome - Synonym(s): Refsum disease

References in periodicals archive ?

Visual electrophysiological examination showed bilateral visual conduction dysfunction and Refsum disease. Refsum disease, also known as phytanic acid storage disease, is an autosomal recessive genetic disease, belonging to hereditary motor sensory neuropathy Type-IV.

Clinical relationship between auditory neuropathy and nervous system diseases

Abbreviations: CG: complementation group; CHO: Chinese hamster ovary; DHAP-ATase: dihydroxyacetonephosphate acyltransferase; DLP1: dynamin-like protein 1; IRD: infantile Refsum disease; NALD: neonatal adrenoleukodystrophy; PBD: peroxisome biogenesis disorder; PMP: peroxisomal integral membrane protein; PTS: peroxisome-targeting signal; RCDP: rhizomelic chondrodysplasia punctata; ZS: Zellweger syndrome.

(1998) Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. Proc.

Peroxisomal disease Peroxisome biogenesis disorders (PBDs) Zellweger spectrum disorders Zellweger syndrome (ZS) Neonatal adrenoleukodystrophy (NALD) Infantile Refsum disease (IRD) Rhizomelic chondrodysplasia punctata (RCDP) Single-enzyme deficiencies Adrenoleukodystrophy (ALD) Acyl-CoA oxidase deficiency D-Bifunctional protein deficiency 3-Ketoacyl-CoA thiolase deficiency Refsum disease (phytanyl-CoA hydroxylase deficiency), [alpha]-Methylacyl-CoA racemase deficiency Hyperoxaluria type I (alanine glyoxylate aminotransferase deficiency) Mevalonate kinase deficiency Glutaric aciduria 3 (glutaryl-CoA oxidase deficiency) Acatalasemia Table 3.

Peroxisome biogenesis and human peroxisome-deficiency disorders

The patient population consisted of the following: SLOS (OMIM 270400), 3 cases; CTX (OMIM 213700), 3 cases; sitosterolemia (OMIM 210250),1 case; and Refsum disease (OMIM 266500), 1 case.

Six samples were obtained from the follow-up during therapy of a patient with Refsum disease. For every inborn error, previous detection of the accumulating metabolite as well as genetic analysis of the relevant gene had confirmed the diagnosis.

Refsum disease. For patients with Refsum disease, phytanic acid [alpha]-oxidation can not take place because of a defect in the enzyme phytanoyl-CoA hydroxylase (EC 1.14.11.18) (24).

Refsum disease. The 0.60-1.05 ppm region of the 1-dimensional [sup.1]H-NMR lipid spectrum of a 29-year-old female patient with Refsum disease is shown in Fig.

However, for Refsum disease, the total clinical picture is required because phytanic acid also accumulates in persons with Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondrodysplasia punctata type 1 (26).

As expected, the ratio for our Refsum disease patient was much lower (3.87), which is fully explained by the branching of the phytanic acid and its concentration compared with other fatty acids in the sample.

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy

Plasma and urine L-pipecolic acid (L-2-piperidinecarboxylic acid; L-PA) [3] is increased in disorders of peroxisomal assembly deficiencies, such as cerebrohepatorenal syndrome (CHRS; Zellweger syndrome), neonatal adrenoleukodystrophy, and infantile Refsum disease (1, 2).

Determination of L-pipecolic acid in plasma using chiral liquid chromatography--electrospray tandem mass spectrometry