Methylglutaconic Aciduria Type I

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To date, there has been reports of less than 20 people diagnosed with this condition worldwide. Due to the rarity of this condition it is difficult to state whether there is greater chance of males or females being diagnosed with this condition and also which ethnicity it may be more prominent in.

Symptoms of this condition may become apparent from the neonatal period of infancy; however, a diagnosis may not be made until childhood due to the similarity of symptoms to other metabolic conditions, below are a list of more common symptoms you may expect to see with this condition:

• Delayed speech
• Failure to thrive
• Vomiting
• Muscle degradation of basal ganglia
• Severe hypertonia [muscle tightness]
• Progressive neurological defects

Signs and symptoms generally vary and are dependant to the extent to which the amino acid levels are elevated, whilst some people may experience the lesser side effects such as vomiting others may experience the more harmful symptoms such as progressive neurological defects.

Clinical diagnosis can be made via blood analysis by a blood test or by urinalysis from a 24-hour urine collection or random 1 off urine sample. Individuals diagnosed with 3-MGA type I can be distinguished from those with other forms of 3-MGA [types II, III and IV]by the distinctive pattern of metabolite excretion. With this form of the metabolic condition, levels are highly elevated above the norm, whereas with the other subgroups of the condition they tend to be only slightly elevated.

In some cases, diagnosis may be made prenatally from the detection of high levels of 3-hydroxyisovaleric acid in the amniotic fluid which is fluid where inside the mother’s womb where the baby normally develops.

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.

Treatment for MGA1 is largely aimed at being symptomatic such as managing vomiting with anti-sickness medication, but dietary management with a modest leucine restriction and supplementation with L-carnitine has found to be beneficial in previous research.

MGA1 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 inheritedMGA1. 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 MGA1 and go on to have further children, their New-born Screening test should be carried out within 24-48 hours of birth.

Established in 2004, Alex TLC provides support for all those with a genetic leukodystrophy and are also an internationally recognised centre of excellence for those affected with adrenoleukodystrophy and adrenomyeloneuropathy.

Alex TLC Contact Details:

• Phone 020 7701 4388
• Email info@alextlc.org
• Website https://www.alextlc.org/

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.

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.