What else is it called?
- Ataxia-deafness-optic atrophy, lethal
- Ataxia, fatal X-linked, with deafness and loss of vision
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What causes it?
Arts syndrome is a X-linked inherited metabolic condition. This condition is caused by mutations to the PRPS1 gene. The PRPS1 gene is involved in providing instructions for making the enzyme phosphoribosyl pyrophosphate synthetase 1. This enzyme helps to make molecules called purines and pyrimidines, these are known as the building blocks of DNA and RNA, it is also involved in making substances such as ATP which is known as the biological currency of cells of the body.
The PRPS1 gene mutation means that these molecules [purines and pyrimidines] cannot be made or are only produced in smaller quantities due to a lack of the enzyme phosphoribosyl pyrophosphate synthetase 1. The disruption to the metabolism of this enzyme may result in problems associated with energy storage and transport into and out of cells. This can have further consequences on tissues that require a large amount of energy such as the brain, kidneys and heart.
How common is it?
Cases of Arts syndrome are very rare. Less than 50 cases have been described worldwide. Symptoms have been described as more severe in males than with females, it is still unclear as to why this is.
What are the signs and symptoms?
Signs and symptoms for Arts syndrome may differ per individual. Symptoms tend to be noticeable from birth. Some of the more common signs and symptoms are:
- Hearing loss
- Weak muscle tone, Floppiness [hypotonia]
- Impaired muscle coordination [Ataxia]
- Developmental delay
- Intellectual disability
- Poor growth
- Recurrent upper respiratory tract infections
In early childhood, it is not uncommon for boys to develop vision loss. There has also been reports of a loss of sensation to limbs. Boys also tend to have problems associated with their immune system, as previous research suggests they frequently contact infections. Sadly, boys diagnosed with Arts syndrome do not survive past childhood. As to date, it is not understood why individuals with this condition tend to get respiratory infections.
How is it diagnosed?
Diagnosis for Arts syndrome can be made by identifying the symptoms that are being expressed, as well as genetic testing if your health care professional thinks you may have this condition or that you have a family history of this condition. Previous research has also identified low levels of uric acid, urinary hypoxanthine and low levels of the phosphoribosyl pyrophosphate synthetase 1 enzyme as features of this condition. These defects would be identified via a blood test or by a urine test.
Can it be treated?
Purine replacement therapy with the drug S-adenosylmethionine is one method which is used with Arts syndrome. This method is still under evaluation but may be useful to some individuals. Other treatment is aimed at managing the symptoms as they present such as weak muscle tone with a dietitian and physiotherapist and hearing loss with an audiologist. As previously mentioned, females tend to have the milder symptoms of this condition and can go on to lead very healthy life’s whereas males tend not to make it past infancy stage. More research is being carried out into the possible treatment for Arts syndrome.
Do my family need to be tested?
Human X and Y chromosomes determine the biological sex of a person, with XX specifying female and XY specifying male
X-linked inheritance patterns differ depending on the type of inheritance. Recessive X linked conditions are always passed through the maternal line with the condition appearing in males and being carried in females, but not usually expressed. Whereas with dominant, one mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder
Males have a greater chance of receiving an X-linked inheritance due to the masking effect of the x gene, if you have two of these x genes as females do then the other X linked gene can mask the effects of the mutated one, whereas with males you only inherited one of these genes so there would be no masking effect.