Trehalase Deficiency

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Trehalase deficiency is defined as your bodies inability to break down trehalose down into simple sugars to be used for energy. Trehalose is found naturally within mushrooms, fungi, algae and insects. it is commonly used within food manufacturing companies as an additional sweetener and is sometimes used in medication. If you have this deficiency, please read food labels carefully to check if Trehalose has been added. Also make sure to check your medication so you can avoid the symptoms.

Trehalase deficiency is a metabolic condition caused by the genes you inherit from your parents. You would usually inherit Trehalase enzymes to enable your body to break trehalose into simple sugars for your body to use as energy. Due to this deficiency, you inherit a small part of the gene to code for the enzyme or no gene at all. This means your body can either break down small quantities or non-at all.

Trehalase deficiency is a rare metabolic disorder. Currently there are no figures to support exactly how rare this condition is globally. Evidence states that Trehalase deficiency is most common within the Greenland’s population where it is estimated to affect up to 15%.

Symptoms of Trehalase deficiency are likely to go undetected as it is uncommon to consume large amounts of food containing Trehalose. Some symptoms to look out for with Trehalase deficiency are:

• Bloating
• Diarrhoea
• Stomach pains

Symptoms of this condition are closely associated with those of Irritable bowel syndrome and chronic diarrhoea and other more common conditions. Therefore, there may be a delay in the diagnosis of this condition.

Trehalase deficiency can be diagnosed by your doctor.  A health care professional would take blood samples to diagnose Trehalase deficiency. They would take a routine biopsy of your small intestine through a procedure called an endoscopy. This involves feeding a small camera down your throat down to the upper part of your small intestine. This would be to either diagnose Trehalase deficiency or to check the levels of Trehalase you have within your small intestine.

Currently there is no treatment for Trehalase Deficiency, management of this condition involves avoiding products containing Trehalose. Some of the foods that may contain Trehalose are:

• Mushrooms
• Confectionary
• Fruit juices
• Chewing gum
• Frozen foods

If you have any further questions or you are unsure what products may contain Trehalose contact your dietitian for further information.

Trehalase deficiency 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 Trehalase deficiency. 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 Trehalase deficiency and go on to have further children, their Newborn Screening test should be carried out within 24-48 hours of birth.

References are available on request. Please contact us on 0800 652 3181 or by emailing contact@metabolicsupport.org.

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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.