Methylglutaconic Aciduria Type V

What else is it called?

  • MGA V
  • MGA 5

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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.


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 1  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?

Unfortunately, there is no current treatment for MGA V, current research suggests that treatment is largely aimed at managing symptoms as they present.

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.

Relevant Organisations


References are available on request. Please contact Helen Morris by phoning 0845 241 2173 or emailing [Resource Library No: AAP002].

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