Glutaric Aciduria Type 2

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This is caused by a problem in one of three genes, known as the ETFA, ETFB, or ETFDH genes. These genes are needed to produce two enzymes which help to break down proteins and fats so our bodies can use them for energy. A problem in one of these genes means that the enzyme is either missing or does not work properly and the body cannot fully break down these proteins and fats. As a result, these partially broken-down nutrients accumulate and cause damage to the cells in the body and high levels of acids build up in the blood (metabolic acidosis) and urine.

It is estimated that 1 in every 200,000 people are diagnosed with this condition. However, this may vary significantly.

Symptoms and signs usually appear for the first time in infancy as a metabolic crisis. This is a severe episode which appears suddenly. It is characterised by:

• Lethargy
• Irritability and/or changes in behaviour
• Muscle weakness
• Poor appetite
• Low blood sugar levels
• High levels of acids in the blood
• Fever
• Nausea
• Diarrhoea & Vomiting

If a metabolic crisis is not treated, symptoms can quickly progress to breathing problems, seizures, and coma. If untreated, a metabolic crisis can be fatal. These episodes can be triggered by long periods without food, illness/infection, periods of stress, or surgery

Severe forms of the disorder often present early, within the first days of life. These babies may have further symptoms.

Some babies are born with physical symptoms such as:

• Low set ears
• High forehead
• Widely spaced eyes
• Sunken bridge of the nose

Other symptoms may include:

• Weak muscle tone (hypotonia)
• An enlarged liver (hepatomegaly)
• Kidney problems
• Heart problems
• Unusual odour

There are milder forms which begin later in childhood or adulthood, often with muscle weakness as the first sign.

This disorder is diagnosed using specialised blood and urine tests. In some countries, it is screened for routinely at birth. Prenatal diagnosis is available if there is a known family history of this condition.

There is no cure for this condition. Treatment varies depending on the severity of the condition. Treatment may involve a low-fat, low-protein, high-carbohydrate diet and/or riboflavin, L-carnitine and glycine supplements.

A specialist dietitian will help you to understand the diet. Any dietary changes must be approved and implemented by the dietitian.

You should avoid long periods without food, and other factors which may trigger a metabolic crisis. When you receive your diagnosis you will be given an emergency regimen explaining what to do if you or your child becomes ill. This includes getting bugs such as vomiting, diarrhoea and fever. If you are unable to tolerate the regimen, continue to be ill and/or develop diarrhoea then you will need to be admitted to hospital to be given a glucose/dextrose drip as soon as possible. You will be given an emergency contact number to ring, however if this is unavailable call 999 for an ambulance or go to your nearest hospital’s accident and emergency (A&E) for treatment.

Humans have chromosomes composed of DNA. Genes are pieces of DNA that carry the genetic instruction. Each chromosome may have several thousand genes. We inherit particular chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.

This is an inherited condition. There is nothing that could have been done to prevent it.

Everyone has a pair of genes that make the enzymes needed to break down fats and proteins. In children with this condition, neither of these genes works correctly. These children inherit one non-working gene from each parent. Parents of children with this condition are carriers of the condition. Carriers do not have the disorder because the other gene of this pair is working correctly.

When both parents are carriers, in each pregnancy the risk to the baby is as follows:

• 25% chance (1 in 4) of the condition
• 50% chance (1 in 2) for the baby to be a carrier of the condition
• 25% chance (1 in 4) for the baby to have two working genes and neither have the condition nor be a carrier

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.