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Arts Syndrome

, PhD, , PhD, and , MB BS, PhD.

Author Information

Initial Posting: ; Last Revision: March 29, 2011.


Clinical characteristics.

Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection, all of which (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood. Twelve of 15 boys from the two Dutch families reported with Arts syndrome died before age six years of complications of infection. Carrier females can show late-onset (age >20 years) hearing impairment and other findings.


Sequence analysis of PRPS1, the only gene associated with Arts syndrome, has detected mutations in both kindreds reported to date.


Treatment of manifestations: Educational program tailored to individual needs. Sensorineural hearing loss has been treated with cochlear implantation with good results. Ataxia and visual impairment from optic atrophy are treated in a routine manner.

Prevention of secondary complications: Routine immunizations against common childhood infections and annual influenza immunization.

Surveillance: Regular neuropsychological, audiologic, and ophthalmologic examinations.

Genetic counseling.

Arts syndrome is inherited in an X-linked manner. If the mother is a carrier, the chance of transmitting the PRPS1 mutation in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and may or may not be mildly affected. Males with Arts syndrome do not reproduce. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.


Clinical Diagnosis

Arts syndrome, part of the spectrum of PRPS1-related disorders that includes PRS superactivity, X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), and DFNX1 nonsyndromic hearing loss and deafness (DFN2) (see Table 2), is characterized by the following:

  • Intellectual disability
  • Profound congenital sensorineural hearing impairment
  • Early-onset hypotonia
  • Delayed motor development
  • Ataxia
  • Optic atrophy
  • Liability to infections, especially of the upper respiratory tract


Serum concentration of uric acid. Although serum uric acid concentration in males with Arts syndrome tends to be low (0.13-0.16 mmol/L), it is still within the normal range (0.12-0.35 mmol/L) [de Brouwer et al 2007].

Note: (1) Serum uric acid concentration is not zero because PRS-II, which has the same enzyme activity as PRS-I, is active in tissues such as liver, which consequently will result in purine nucleotide synthesis and uric acid production. (2) However, a low/normal serum uric acid concentration may be helpful in ruling out a diagnosis of PRS superactivity, in which serum uric acid concentration is usually high.

Purine analysis in urine

  • Urine hypoxanthine is undetectable in Arts syndrome.
  • When individuals with Arts syndrome are on a low purine diet, the uric acid to creatinine ratio in urine may also tend to be at the lower end of normal, but not zero.
  • The concentrations of other purines in urine are within the normal range.

Phosphoribosylpyrophosphate synthetase (PRS) enzyme activity in erythrocytes and fibroblasts. In individuals with Arts syndrome, PRS enzyme activity is:

Molecular Genetic Testing

Gene. PRPS1, encoding the enzyme phosphoribosyl pyrophosphate synthetase I, is the only gene known to be associated with Arts syndrome.

Clinical testing

Table 1.

Summary of Molecular Genetic Testing Used in Arts Syndrome

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
Affected MalesCarrier Females
PRPS1Sequence analysis 4Point mutations100% 5100% 4

See Molecular Genetics for information on allelic variants.


The ability of the test method used to detect a mutation that is present in the indicated gene


Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Two families reported to date [de Brouwer et al 2007]

Interpretation of test results. To determine if a missense mutation represents a pathologic mutation, it may be necessary to look for biochemical evidence of Arts syndrome by measuring the serum concentration of uric acid and purines in the urine.

Testing Strategy

To establish the diagnosis in a proband

  • Suggestive findings
    • Serum uric acid concentration lower than average
    • Absent/low hypoxanthine on analysis of purines in the urine
  • Definitive diagnosis
    • Identification of a disease-causing mutation on sequence analysis of PRPS1
    • Absence of PRS enzyme activity in erythrocytes

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutation in the family.

Note: (1) Carriers are heterozygotes for this X-linked disorder and may develop clinical findings related to the disorder, most notably late-onset (age >20 years) hearing impairment. (2) Identification of female carriers requires either (a) prior identification of the disease-causing mutation in the family or (b) molecular genetic testing by sequence analysis if an affected male is not available for testing.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutation in the family.

Clinical Characteristics

Clinical Description

Arts syndrome is characterized by intellectual disability, early-onset hypotonia, ataxia, delayed motor development, profound congenital sensorineural hearing impairment, and progressive optic atrophy [Arts et al 1993, de Brouwer et al 2007].

At birth these symptoms can be present in various combinations. All symptoms except for the visual impairment become apparent in the first two years of life. Visual impairment usually becomes obvious after age two years.

Delayed motor nerve conduction velocities and an electromyography suggestive of denervation develop during early childhood and are consistent with clinical findings that suggest peripheral neuropathy.

Affected males usually have mild to moderate intellectual disability; however, cognitive abilities can be difficult to assess in the presence of combined visual and hearing impairment.

Liability to infections, especially upper-respiratory tract infections, resulted in death before age six years in 12 of 15 boys from the two Dutch families reported with Arts syndrome. During infection, the slowly progressive muscle weakness is punctuated by acute deterioration in muscle strength, which may result in respiratory failure requiring mechanical ventilation.

Carrier females can show isolated and/or milder manifestations, most notably late-onset (> age 20 years) hearing impairment; however, ataxia, hypotonia, and hyperreflexia have been reported as well [Arts et al 1993].


MRI shows no recognizable abnormalities, such as reduction of white matter in the brain, which would be indicative of demyelination [de Brouwer et al 2007].

Sural nerve biopsy in a five-year-old boy with Arts syndrome from the original Dutch family showed a loss of myelinated fibers, but no signs of demyelination or axonal degeneration [Arts et al 1993]. Sural nerve biopsy of a two-year-old boy from the Australian family, who had absent lower-limb deep tendon reflexes and nerve conduction studies indicative of peripheral neuropathy, showed mild paranodal demyelination indicative of peripheral neuropathy [de Brouwer et al 2007].

Autopsy of one individual who died at age five and a half years revealed complete absence of myelinated axons in the posterior columns of the spinal cord, although their number and appearance were normal in the other tracts [Arts et al 1993]. A number of dorsal root nerves showed the same abnormalities as posterior columns. No abnormalities were seen in the brain stem or in the gray and white matter of the cerebral and cerebellar hemispheres.

Genotype-Phenotype Correlations

Computer-assisted molecular modeling showed that mutations causing Arts syndrome and CMTX5 disturb the ATP binding site of PRS-I.

Mutations that result in PRS superactivity disturb either one or both allosteric sites that are involved in the inhibition of PRS I enzyme activity.

Mutations that lead to DFNX1 nonsyndromic hearing loss and deafness (DFN2) either disturb local stability of PRS I or moderately affect interactions in the trimer interface.


Penetrance in males is complete.


Two kindreds with Arts syndrome have been identified worldwide [de Brouwer et al 2007].

Differential Diagnosis

Arts syndrome can be distinguished clinically from PRS superactivity by the presence of gouty arthritis in the latter. In Arts syndrome purine production is low/normal, whereas in PRS superactivity purine overproduction is a primary manifestation. Because dietary purine contributes significantly to urinary uric acid, a standard low purine diet is required for the biochemical diagnosis of purine over- or underproduction.

Arts syndrome can be distinguished clinically from CMTX5 because CMTX5 does not have intellectual disability or recurrent infections. Arts syndrome and CMTX5 cannot be distinguished using results of serum uric acid testing.

Arts syndrome can be distinguished clinically from DFNX1 nonsyndromic hearing loss and deafness (DFN2) because individuals with DNF2 do not have intellectual disability or recurrent infections. Arts syndrome and DFN2 cannot be distinguished using biochemical testing.

Other disorders similar to Arts syndrome have not been described, except perhaps for spinocerebellar ataxia, X-linked 3, although the features and progression in this disorder seem to be somewhat different [Schmidley et al 1987]. Moreover, this disorder has not been assigned to a specific region on the X chromosome; thus, it remains to be seen whether it may be caused by PRPS1 mutations as well.


Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with Arts syndrome, the following evaluations are recommended:

  • Neurologic evaluation for manifestations of hypotonia, ataxia, presence/absence of tendon reflexes
  • Audiometry for evidence of hearing loss
  • Eye examination for evidence of optic atrophy
  • Assessment of intellectual abilities
  • Analysis of the family pedigree for other possible affected individuals and carrier females

Treatment of Manifestations

Intellectual disability. An individualized educational support program tailored to the patient’s needs and based on assessment of cognitive abilities should be provided.

Sensorineural hearing loss. See Deafness and Hereditary Hearing Loss Overview, Management. Cochlear implantation in the two affected Australian males was associated with improved communication skills.

Optic atrophy. No treatment is available.

Ataxia. See Hereditary Ataxias, Management.

Prevention of Secondary Complications

Because of immune system compromise in males with Arts syndrome, the following are recommended:

  • An annual influenza immunization
  • Routine immunizations against other common childhood infections (e.g. measles, mumps)


Cognitive impairment appears to be non-progressive, but repeat neuropsychologic assessments are recommended to help guide educational support programs.

Although the sensorineural deafness appears to be static (albeit very severe), regular audiologic assessment is recommended so that educational support can be optimized.

Visual impairment appears to be progressive; thus, regular evaluation by an ophthalmologist is recommended.

Evaluation of Relatives at Risk

Females at risk of being carriers should be evaluated for the family-specific PRPS1 mutation because clinical manifestations observed in carriers may only become apparent at a later age.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Dietary S-adenosylmethionine (SAM) supplementation could theoretically alleviate some of the symptoms of Arts syndrome by providing an oral source purine nucleotide precursor that is not PRPP dependent. Furthermore, SAM is known to cross the blood-brain barrier. An adult with HPRT deficiency has been reported to benefit neurologically from SAM administration without untoward side effects [Glick 2006].

An open-label clinical trial of SAM in two Australian brothers (ages 14 and 13 in 2010) with Arts syndrome is continuing [J Christodoulou et al, unpublished data; approved by the ethics and drug committees, Children's Hospital at Westmead, Sydney, Australia]. Oral SAM supplementation is presently set at 30 mg/kg/day. The brothers appear to have had significant benefit from this therapy based on decreased number of hospitalizations and stabilization of nocturnal BIPAP requirements; however, slight deterioration in their vision has been noted.

Mildly affected carrier females from families with Arts syndrome may also benefit from SAM supplementation in their diet, although this remains to be tested.

Search for access to information on clinical studies for a wide range of diseases and conditions.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Arts syndrome is inherited in an X-linked manner.

Risk to Family Members

Parents of a male proband

  • In a family with more than one affected individual, the mother of an affected male is likely to be an obligate carrier.
    • A mother who is a carrier may have a de novo gene mutation or she may have inherited the disease-causing mutation from one of her parents.
  • The father of an affected male will have neither the disease nor the mutation.
  • When an affected male is the only affected individual in the family several possibilities regarding his mother's carrier status need to be considered:
    • He has a de novo disease-causing mutation in PRPS1 and his mother is not a carrier. The frequency of de novo mutations is not known.
    • His mother has a de novo disease-causing mutation in PRPS1, either as (a) a "germline mutation" (i.e., present at the time of her conception and therefore in every cell of her body); or (b) "germline mosaicism" (i.e., present in some of her germ cells only).
    • His mother has a disease-causing mutation that she inherited from a maternal female ancestor.

Parents of a female proband

  • If the proband is a female and if pedigree analysis reveals that she is the only affected family member, it is reasonable to offer molecular genetic testing to both of her parents to determine risks to family members.
  • If the proband's father is asymptomatic, it is possible, but not likely, that he has the mutation in some cells in his body (somatic or germline mosaicism). If her father is asymptomatic and does not have somatic or germline mosaicism for the altered gene, the possible genetic explanations for the origin of the proband's gene mutation are the same as for a male proband with a negative family history.

Sibs of the proband

  • The risk to the sibs of a proband depends on the genetic status of the parents.
    • If the mother has a disease-causing mutation, the chance of transmitting the PRPS1 mutation in each pregnancy is 50%. Male sibs who inherit the mutation will be affected; female sibs who inherit the mutation will be carriers and may or may not be mildly affected.
    • If the father of a female proband is affected, all female sibs will inherit the mutation and may or may not be mildly affected. None of the male sibs will inherit the mutation.
  • When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low but greater than that of the general population.
    • If the disease-causing mutation cannot be detected in the DNA of either parent of the proband, two possible explanations are germline mosaicism in a parent or a de novo mutation in the proband.
    • Although no instances of germline mosaicism have been reported, it remains a possibility.

Offspring of a male proband. Males with Arts syndrome do not reproduce.

Offspring of a female proband. Females with a PRPS1 mutation have a 50% chance of transmitting the gene to each child; sons who inherit the gene will be affected; daughters have a range of possible phenotypic expression.

Other family members of the proband. If a parent of the proband also has a disease-causing mutation, his or her female family members may be at risk of being carriers (asymptomatic or symptomatic) and his or her male family members may be at risk of being affected depending on their gender and genetic relationship to the proband.

Carrier Detection

Carrier testing is possible if the mutation has been identified in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

Prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks’ gestation or chorionic villus sampling (CVS) at approximately ten to 12 weeks’ gestation. The disease-causing mutation of an affected family member must be identified before prenatal testing can be performed. Usually fetal sex is determined first and molecular genetic testing is performed if the karyotype is 46,XY.

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutation has been identified.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • American Association on Intellectual and Developmental Disabilities (AAIDD)
    501 3rd Street Northwest
    Suite 200
    Washington DC 20001
    Phone: 202-387-1968
    Fax: 202-387-2193
  • American Society for Deaf Children (ASDC)
    800 Florida Avenue Northeast
    Suite 2047
    Washington DC 20002-3695
    Phone: 800-942-2732 (Toll-free Parent Hotline); 866-895-4206 (toll free voice/TTY)
    Fax: 410-795-0965
  • National Ataxia Foundation
    2600 Fernbrook Lane
    Suite 119
    Minneapolis MN 55447
    Phone: 763-553-0020
  • National Center on Birth Defects and Developmental Disabilities
    1600 Clifton Road
    MS E-87
    Atlanta GA 30333
    Phone: 800-232-4636 (toll-free); 888-232-6348 (TTY)
  • National Eye Institute
    31 Center Drive
    MSC 2510
    Bethesda MD 20892-2510
    Phone: 301-496-5248

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Arts Syndrome: Genes and Databases

Data are compiled from the following standard references: gene from HGNC; chromosome locus, locus name, critical region, complementation group from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B.

OMIM Entries for Arts Syndrome (View All in OMIM)


Gene structure. PRPS1 consists of seven exons that code for PRS-I, a protein of 318 amino acid residues. Only one isoform has been described for PRS-I. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic allelic variants. To date, only two mutations have been identified (see Table 3), resulting in missense changes at the protein level.

Table 3.

Selected PRPS1 Allelic Variants

Class of Variant AlleleDNA Nucleotide ChangeProtein Amino Acid Change
(Alias 1)
Reference Sequences
Benignc.336T>Cp.(=) 2

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​ See Quick Reference for an explanation of nomenclature.

1. Variant designation that does not conform to current naming conventions

2. p.(=) designates that protein has not been analyzed, but no change is expected.

Normal gene product. PRS-I catalyzes the synthesis of phosphoribosyl pyrophosphate (PRPP) from ATP and ribose-5-phosphate. PRPP is essential for the de novo synthesis of purine, pyrimidine, and pyridine nucleotides. For purine synthesis, PRPP is utilized as a substrate for PRPP amidotransferase, which is the first step in the de novo purine synthesis pathway, producing purine nucleotides such as ATP and GTP, and serves specifically as the rate-limiting reaction for purine nucleotide synthesis in vivo. PRPP is also essential for pyrimidine nucleotide synthesis, where it acts as cofactor for uridine monophosphate synthetase, which converts orotic acid into UMP, the precursor of other pyrimidine nucleotides including UTP, CTP, and TTP. Finally, PRPP is utilized for pyridine nucleotide synthesis by nicotinate phosphoribosyl transferase and nicotinamide phosphoribosyl transferase, which add a ribonucleotide moiety to nicotinic acid and nicotinamide respectively, which in turn are converted into the important cofactor NAD.

Apart from de novo synthesis of purine, pyrimidine, and pyridine nucleotides, PRPP is also essential for the salvage of purine bases by hypoxanthine guanine phosphoribosyl transferase and adenine phosphoribosyl transferase. This mechanism ensures efficient reutilization of purine bases and nucleosides, since de novo purine nucleotide synthesis using PRPP as the substrate requires in total of seven moles of ATP for generation of each mole of nucleotide, whereas salvage requires only one mole of ATP, for the synthesis of PRPP.

Abnormal gene product. In silico molecular modeling predicted that both missense mutations would result in a loss of PRS-I activity, which was accordingly demonstrated by in vitro PRS enzyme assays in erythrocytes and fibroblasts from the Australian family and fibroblasts from the Dutch kindred. This was reflected by undetectable urine hypoxanthine and reduced plasma uric acid levels in the two patients from the Australian family.


Literature Cited

  1. Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol. 1993;33:535–9. [PubMed: 8498830]
  2. de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet. 2007;81:507–18. [PMC free article: PMC1950830] [PubMed: 17701896]
  3. García-Pavía P, Torres RJ, Rivero M, Ahmed M, Garcia-Puig J, Becker MA. Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. Arthritis Rheum. 2003;48:2036–41. [PubMed: 12847698]
  4. Glick N. Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. J Inherit Metab Dis. 2006;29:687. [PubMed: 16906475]
  5. Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007;81:552–8. [PMC free article: PMC1950833] [PubMed: 17701900]
  6. Lui X, Han D, Li J, Li X, Han B, Ouyang X, Cheng J, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H. loss-of-function mutations in the PRPS1 gene cause non-syndromic X-linked sensorineural deafness (DFN2). Am J Hum Genet. 2009;86:65–71. [PMC free article: PMC2801751] [PubMed: 20021999]
  7. Rosenberg RN, Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology. 1967;17:827–32. [PubMed: 6069085]
  8. Schmidley JW, Levinsohn MW, Manetto V. Infantile X-linked ataxia and deafness: a new clinicopathologic entity. Neurology. 1987;37:1344–9. [PubMed: 3614654]

Suggested Reading

  1. Dalbeth N, Merriman T. Hyperuricemia and gout. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). 2015. New York, NY: McGraw-Hill. Chap 106.

Chapter Notes


The authors are grateful to the families of the Dutch and Australian patients for providing samples used for biochemical and molecular analyses over a number of years.

Revision History

  • 29 March 2011 (cd) Revision: edits to Differential Diagnosis
  • 4 January 2011 (cd) Revision: changes to therapies under investigation
  • 18 November 2010 (me) Comprehensive update posted live
  • 21 October 2008 (me) Review posted live
  • 3 June 2008 (apmb) Original submission
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