Lactate Dehydrogenase deficiency

What else is it called?

  • Deficiency of lactate dehydrogenase
  • Lactate dehydrogenase subunit deficiencies
  • LDH deficiency

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What causes it?

Lactate dehydrogenase deficiency [LDH deficiency] is an autosomal recessive condition. It is believed that mutations to the LDHA gene and LDHB gene are the cause behind this condition. A mutation to the LDHA gene impacts the way in which your body breaks down sugars for energy in your muscle tissue. LDHA is found in cardiac [heart] tissue, although there is no evidence that suggests that this gene mutation impacts the heart. These 2 genes provide the body with instructions to make an enzyme which is capable of breaking down sugars into smaller subunits in the muscle for energy production. These enzymes are usually found in skeletal muscle which requires a large amount of energy during high bouts of physical activity.

There are two types of this condition; Lactate dehydrogenase A deficiency and Lactate dehydrogenase B deficiency, both of which have contrasting symptoms.

How common is it?

It has been suggested that males and females are at an equal risk of inheriting this condition. It Is difficult to give an exact number for the amount of people that have been diagnosed with this metabolic condition as most people do not realise that they have this condition.

What are the signs and symptoms?

Symptoms of LDH deficiency generally present in adulthood and they do not progress past this stage. Symptoms can differ depending on which subgroup you have been diagnosed with [A or B]. Some of the signs and symptoms of this condition are:

Lactate dehydrogenase A deficiency:

  • Muscle pain
  • Muscle spasms
  • Skin rashes
  • Kidney damage
  • Cramps
  • Exercise intolerance

Lactate dehydrogenase B deficiency:

Individuals with this condition tend not to have any signs and symptoms. It is currently unclear as to why this gene mutation does not cause any side effects. The condition is usually diagnosed when a routine blood test is taken.

How is it diagnosed?

LDH is generally diagnosed by a blood test. This is to check for elevated levels of creatine phosphokinase. Lactate and pyruvate, all metabolites that are usually raised when this condition is present. This, along with symptoms expressed that are linked to this condition may be a good way to diagnose this condition. Genetic testing may also be another useful way to diagnose this condition, this may be carried out if it is believed that you may have this condition or if you have a family history of this condition.

Can it be treated?

Currently, there is very little information on the treatment of this condition. It is believed that treatment is aimed at managing the symptoms as they present. It may be that you are referred to a physio for muscle cramps and muscle pain. This may also be useful to build up your exercise tolerance.

Do my family need to be tested?

LDH 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 LDH 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 LDH deficiency and go on to have further children, their New-born 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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