What are the Best Treatments for Carnosinemia?

There are billions of people in the world, and the possibility of developing a disease from healthy parents is low. Still, it’s not impossible. One of these diseases is Carnosinemia, which often shows no symptoms but can also cause intellectual deficiency. The gene that causes it hasn’t been identified yet, nor have scientists discovered an effective treatment. They’re not even sure if treatment is necessary! Keep reading this article to learn everything we know about Carnosinemia today.

What is Carnosinemia?          

Carnosinemia, also known as Carnosinase Deficiency, is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase. It is distinguished by damaged neurological function or developmental delays in the body. Symptoms can begin as early as the first few months after birth, and it affects females and males equally.

Carnosinemia can be diagnosed through specialized testing, which determines if the levels of carnosine are too high in the urine or if there is an abnormally low amount of enzyme carnosinase in the blood.

There are a few disorders that are similar to Carnosinemia. Phenylketonuria, also a rare metabolic disease, is marked by a liver enzyme deficiency in infants. Furthermore, Tetrahydrobiopterin Deficiency is a rare inherited neurological disease in infants that causes high phenylalanine levels.

Causes of Carnosinemia

Carnosinemia is a hereditary autosomal genetic disorder. It comes from recessive genes, which means the person would have received the same unique gene from both parents. There is a 25% risk that both parents will pass the abnormal gene to their child, thus causing them to develop Carnosinemia, while there is a 50% risk of the child being a carrier of the gene via one parent without suffering symptoms themselves. The risk of getting it increases if the parents are closely related.

The precise nature of the biochemical deficiency that results in Carnosinemia is not very clear. According to studies on the muscle tissue of patients, the breakdown of carsosine by the carnosinase enzyme is abnormal and occurs in two parts. Patients with Carnosinemia have abnormally high levels of carsosine in their urine and abnormally low levels of the carnosinase enzyme in their own blood. The neurological symptoms and connection of Carnosinemia remain unclear.

Symptoms of Carnosinemia

Carnosinemia can occur in children under 1 year old. During infancy, symptoms will include seizures and drowsiness. Children may also experience a delay in mental development, motor skills and growth. Advanced harm to the nervous system will cause the seizures to be accompanied by involuntary muscle movements such as a jerking motion of the head, arms or legs. Mental retardation becomes more prominent once children reach two years of age. Most patients are asymptomatic, and those that do have symptoms vary in how it presents itself. The following are some of the most common symptoms:

  • Attention deficit disorder
  • Hypotonia
  • Mental retardation
  • Myoclonic and/or absence seizures
  • Neurosensory hearing loss
  • Nonspecific electroencephalographic abnormalities
  • Optic atrophy
  • Peripheral sensory neuropathy
  • Progressive childhood dementia
  • Psychomotor retardation
  • Retinitis pigmentosa
  • Spastic paraparesis
  • Tremors

There are many specialist doctors or other health care professionals who have experience with this disease that you can turn to for further advice.

Treatments for Carnosinemia

Treatments for Carnosinemia are not effective, so the goal is to identify and treat any related health problems such as diabetes. If there is no problem with the patient’s health, the primary goal is dietary management. The patient must restrict their cholesterol intake, sugars and refined carbohydrates, as these will raise their triglyceride levels. Consuming foods that are rich in Omega- 3 essential fats such as fish oils has been proven to help reduce triglyceride levels. There is also drug therapy, which can be beneficial in lowering cholesterol levels and plasma triglyceride levels if the diet is not effective.

Genetic counseling is recommended for the Carnosinemia patient and their family.


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