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What causes it?
Hyper-beta-alaninaemia is a rare autosomal recessive metabolic condition which is thought to be caused due to a loss of the functional enzyme beta-alanine-alpha-ketoglutarate transaminase. The enzyme, which usually breaks down the beta amino acids [protein building blocks] may only be produced in small quantities or not at all.
It is thought that Increased levels of the amino acid alanine somehow reduces the level of taurine in cells. Taurine is another amino acid which can be made into proteins in the body. A lack of taurine may contribute to the respiratory distress expressed with hyper-beta-alaninaemia
How common is it?
Hyper-beta-alaninaemia has been reported in less than 50 individuals in literature. Due to this rarity, it is unclear whether this condition presents more in females or males or in specific ethnicities.
What are the signs and symptoms?
Signs and symptoms for this condition tend to present from birth. Some of the signs and symptoms of this condition are:
- Failure to thrive
How is it diagnosed?
This condition may be identified by elevated levels of urinary B alanine by a urine sample. This may be the first protocol in identifying symptoms, this may lead to genetic testing taking place.
Diagnosis is primarily made through genetic testing. This involves taking a swab from your cheek or another area to check if your genetic makeup is impacted by this condition. Due to the rarity and symptoms likened to other conditions, there can be a delay in diagnosis. You are more likely to be tested for this condition if you have a family history of Hyper-beta-alaninaemia.
Can it be treated?
Do my family need to be tested?
Hyper-beta-alaninaemia 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 hyper-beta-alaninaemia. 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 hyper-beta-alaninaemia and go on to have further children, their New-born Screening test should be carried out within 24-48 hours of birth.