Methylglutaconic Aciduria Type V
What else is it called?
- MGA V
- MGA 5
Get in touch
Contact our caring team on 0800 652 3181 for help and support. Our phone lines open 10am-4pm, Monday to Friday.
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What causes it?
MGA V is an autosomal recessive condition which belongs to a group of 5 different conditions of the 3-methylglutaconyl aciduria, all of which effect the body’s mitochondria where energy is produced. MGA V is characterised by the onset of cardiac problems from birth or from early infancy. With this condition, many children do not make it into adulthood and often pass away from cardiac complications.
It is speculated that the underlying mutation in the DNAJC19 gene leads to a defective mitochondrial protein import which is the cause of this condition and leads to the build-up of potentially harmful substances in the body and a lack of product that would otherwise be produced.
How common is it?
To date, it has been reported that this metabolic condition affects 1-200,000 individuals, more commonly males worldwide. There have been no reports that this condition is more prominent with a specific ethnicity.
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What are the signs and symptoms?
Symptoms of this condition may become apparent from infancy or early childhood. Below is a list of more common symptoms you may expect to see with this condition:
- Dilated heart muscles
- Microcytic anaemia
- Muscle weakness
- Failure to thrive
- Ataxia
It is worth noting that whilst these may be general and more common signs and symptoms for this metabolic condition not all of them will be expressed and the symptoms experienced will be unique. Some individuals have also been found to have progressive psychomotor complications, genital abnormalities and delayed eye development complications.
How is it diagnosed?
Clinical diagnosis can be made via blood analysis or by urinalysis from a 24-hour urine collection or random 1 off urine sample. Individuals diagnosed with 3-MGA type 5 can be distinguished from those with 3-MGA 1Â as levels are highly elevated above the norm, whereas with the other subgroups of the condition they tend to be only slightly elevated, the diagnosis then relies upon gene testing and symptoms that accompany MGA V.
In some countries, the new born screening test for this metabolic condition may be available, this involves a heel prick test from your babies heel approximately 6-8 weeks after birth to test for different conditions, this is more likely to be tested if this condition is present within your family history.
Can it be treated?
Do my family need to be tested?
MGA V can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.
If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.
If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.
Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inherited MGA V. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.
If you have previously had a child with MGA V and go on to have further children, their New-born Screening test should be carried out within 24-48 hours of birth.
More Resources
Relevant Organisations
References
References are available on request. Please contact us on 0800 652 3181 or by emailing contact@metabolicsupport.org.
Please note calls to 0800 numbers are free from UK landlines and mobiles. Calls from business lines may be charged – please check with your provider.
Disclaimer
This information about metabolic diseases is provided by Metabolic Support UK and is intended for educational purposes only. It should not be used for diagnostic or treatment purposes.
Should you require more detailed information please contact Metabolic Support UK by email (contact@metabolicsupport.org) or by telephone ( 0800 652 3181). For specific medical information regarding a disorder or individual please contact your GP or Paediatrician. Metabolic Support UK accepts no responsibility for any errors or omissions nor does Metabolic Support UK assume any liability of any kind for the content of any information contained within this summary or any use that you may make of it.
