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Phenylketonuria

Phenylketonuria (PKU) is a rare metabolic disorder that can occur in dogs. It is caused by a defect in an enzyme that breaks down the amino acid phenylalanine. When phenylalanine builds up in the blood, it can lead to serious health problems such as mental retardation, seizures, skin problems and behavioral disorders. In this article, you'll learn more about PKU in dogs, how to diagnose and treat it, and how to give your dog a good life.

What are the causes of PKU in dogs?

PKU is a hereditary disease that is inherited in an autosomal recessive manner. This means that both parents must be carriers of the defective gene for a puppy to develop PKU. The probability of two carriers having an affected puppy is 25%. The breeds most commonly affected by PKU are English Setters, Border Collies, Australian Shepherds and German Shepherds.

The defective gene means that the enzyme phenylalanine hydroxylase (PAH) does not function properly or is not present at all. PAH is responsible for converting phenylalanine into tyrosine, another amino acid that is needed for many important bodily functions. Phenylalanine is an essential amino acid that the body cannot produce itself and must be obtained from food. If PAH is missing or not working, phenylalanine accumulates in the blood and can damage the brain and other organs.

What are the symptoms of PKU in dogs?

The symptoms of PKU in dogs can vary depending on the severity of the condition. The first signs usually appear in puppyhood when the dog is eating solid food. The most common symptoms include

  • Delayed development
  • Mental retardation
  • Hyperactivity
  • Aggressiveness
  • Anxiety
  • Trembling
  • Seizures
  • Skin problems such as hair loss, eczema or dandruff
  • Eye problems such as cataracts or inflammation
  • Smell of mouse urine

How is PKU diagnosed in dogs?

PKU in dogs is diagnosed by a blood test that measures the phenylalanine level in the blood. A normal value is between 0.4 and 1 mg/dl. A value above 2 mg/dl indicates PKU. The blood test should be carried out as early as possible to enable early treatment.

There is also a genetic test for PKU in dogs, which can detect the presence of the defective gene using a saliva sample or a tissue sample. This test can be used before breeding to avoid mating two carriers.

How is PKU treated in dogs?

The treatment of PKU in dogs consists mainly of a special diet that reduces the phenylalanine content. This diet must be followed for life to control the symptoms and prevent further damage. The diet should consist of high quality protein with low phenylalanine content, such as egg whites or dairy products. It should also be enriched with vitamins and minerals to prevent deficiency symptoms.

The diet must be individually tailored to the dog, depending on its weight, activity level and state of health. It is important to check the phenylalanine level in the blood regularly and adjust the diet accordingly. The diet should only be followed under the guidance of a vet or nutritionist to avoid over- or under-supply.

In addition to diet, medication can also be used to alleviate the symptoms of PKU in dogs. For example, anticonvulsants can prevent or reduce seizures, and antihistamines can alleviate skin problems. However, these medications should only be given after consultation with your vet as they can have side effects.

How can you give a dog with PKU a good life?

A dog with PKU can lead a happy and fulfilling life if given the right treatment. Some tips to help a dog with PKU are:

  • Follow the dietary instructions closely and avoid giving the dog treats or other foods that are not suitable for him.
  • Provide the dog with sufficient exercise and activity to keep him physically and mentally fit.
  • Visit the vet regularly and have the phenylalanine level in the blood checked.
  • Be patient and understanding with the dog if it shows behavioral problems. Try to give him positive reinforcement and avoid stressful situations.
  • Find out more about PKU in dogs and talk to other dog owners who are in a similar situation.

PKU in dogs is a serious condition that requires lifelong treatment. However, with the right diet and medical care, a dog with PKU can lead a normal life. If you have a dog with PKU or would like to adopt one, you should be well informed and seek advice from a vet. This way you can give your dog the best possible care and a loving home.


The authors assume that a veterinarian should be consulted if an animal is ill and that medication should only be taken after consultation with a doctor or pharmacist. Only an individual examination can lead to a diagnosis and treatment decision.

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