MEGDEL Syndrome

What else is it called?

  • 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • MEGDHEL syndrome
  • SERAC1 defect

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What causes it?

MEGDEL syndrome is an inherited metabolic condition which is characterised by high levels of acid within the body’s system, the gene for this condition is

MEGDEL syndrome is caused by mutations in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, although research suggests that it is involved in altering (remodelling) certain fats called phospholipids, particularly a phospholipid known as phosphatidylglycerol. Current research suggests that another protein called cardiolipin is thought to be produced by phosphatidylglycerol. This is a structure that surrounds and supports the rigidity of the mitochondrial membrane of the cell which produces energy for the body to use.

Mutations to this gene mean that this enzyme either gets produced in small amounts or not at all and cause the cardiolipin to therefore not be produced. Research into this condition is still ongoing, it is unclear how mutations causes this gene defect however it is believed that it does causes mitochondrial dysfunction.

How common is it?

Recent reports suggest that this condition has affected 40 people so far with no preference over males or females nor any preference to be found with ethnicity.

What are the signs and symptoms?

Signs and symptoms of this condition vary from person to person, general symptoms that one may encounter are:

  • Deafness
  • Leigh like syndrome symptoms
  • Intellectual disability/ brain dysfunction [encephalopathy]
  • Low blood sugars (hypoglycaemia)
  • Problems with the liver
  • Abnormally high levels of lactic acid within blood
  • Dystonia
  • Global development delay
  • Ataxia
  • Generalised hypotonia

Diagnosis of this condition may be difficult as Individuals with this metabolic condition have symptoms that resemble those of leigh syndrome.

How is it diagnosed?

MEGDEL syndrome is generally diagnosed by urine sample and through a baby’s first check, to check levels of 3-methylglutaconic aciduria. This would involve collecting a urine sample from the baby or child to test these values.

Can it be treated?

Treatment for care is best provided through a multi-disciplinary team, treatment is generally aimed at managing the symptoms experienced by the individual. The life expectancy of individuals with MEGDEL syndrome is unknown. Because of the severe health problems caused by the disorder, some affected individuals do not survive past infancy.

Do my family need to be tested?

MEGDEL syndrome 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 MEGDEL syndrome. 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 MEGDEL syndrome and go on to have further children, their Newborn 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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