What Are The Best Treatments For Carnosinemia?


There are billions of people around the world. The possibility of developing a disease from healthy parents are low. Nevertheless, developing a very rare disease is not impossible. Around the world, 30 individuals have been told to have Carnosinemia disease. Furthermore, there are patients who have no symptoms and all and others show an intellectual deficiency. The gene that’s in association with Carnosinemia disease is not yet identified and there is no effective treatment available for the condition as of the moment. According to studies, the treatments for Carnosinemia is still uncertain whether it is necessary for the patient or not. Read this article and you will get to know about the possible treatments for Carnosinemia.

Carnosinemia: What is this condition?          

Carnosinemia is also known as Carnosinase Deficiency. Moreover, it is a rare autosomal recessive metabolic disorder that is due to the deficiency of carnosinase. It is distinguished by damaged neurological function or developmental delays of the body. Furthermore, the symptoms of this disease can begin during the first few months after birth. In addition, it affects females and males with equal possibility.

Moreover, Carnosinemia can be diagnosed through specialized testing that will tell when the levels of the carnosine are too high in the urine. Alternatively, and when there is an abnormally low amount of enzyme carnosinase in the blood.

In addition, there are also other related disorders that are similar to Carnosinemia. Phenylketonuria is also a rare metabolic disease for infants that is due to the deficiency of the liver enzyme. Furthermore, there is also Tetrahydrobiopterin Deficiency. It is also a rare inherited neurological disease for infants. It causes high phenylalanine because of the deficiency of tetrahydrobiopterin.

Causes of Carnosinemia

Carnosinemia is hereditary as an autosomal receding genetic disorder. Recessive genetic trait occurs when a certain person receives the same strange gene with the similar trait that is from each of his parents. If that individual obtains one regular gene and one abnormal gene, that individual will be the carrier of the Carnosinemia disease.

There is a 25% risk with every pregnancy for two parents that are a carrier of Carnosinemia to both give the abnormal gene to the child. And there is 50% risk with every pregnancy to have a Carnosinemia carrier child.  But, there is also a 25% chance for the child to obtain normal genes from both parents and become genetically normal. There is an equal risk for both females and males to develop the disease.

Individuals carry four to five abnormal genes. Close relative parents have a greater chance of both bring the same genes that are abnormal than the unrelated parents. In this cases, related parents have the higher risks to bear children with Carnosinemia.

On the other hand, the precise nature of the biochemical deficiency that results in Carnosinemia is not that clear. According to the muscle tissue studies of the patients, the breakdown of carsosine by the carnosinase enzyme is abnormal. The enzyme carnosinase breaks down the carnosine in two parts. Patients with Carnosinemia have abnormally great levels of carsosine in their own urine and abnormal low level of carnosinase enzyme in their own blood.

The neurological symptoms of Carnosinemia remain not clear on how it is in relation to the absence or presence of carsosine, the constituents of it, or the carnosinase.

Symptoms of Carnosinemia

Carnosinemia can occur in children below one-year-old.  During infancy, the symptoms of Carnosinemia are seizures and drowsiness. Children with this disorder also experience a delay in the mental development, delay in motor skills and slow in growth. When the harm to the nervous system advances, the seizures are accompanied by involuntary muscle movements such as jerking of the head, arms, and legs. For two-year-old children, mental retardation becomes obvious.

Patients with Carnosinemia are asymptomatic. But, when the symptoms are present, they vary. Other symptoms may vary from a patient to another patient. Patients with Carnosinemia may not have all the following symptoms:

  • And 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
  • Tremor

If the patient needs medical advice, he can look for doctors or other health care professionals who have experience with this disease. There are also specialists. There are also hospitals that have the latest technology and treatments.

Treatments for Carnosinemia

Treatments for Carnosinemia are not effective.  The goal is to treat and identify if there are any health problems of the patient such as diabetes. If there is no problem with the patient’s health, the primary thing to do is dietary management. The patient must restrict the cholesterol intake, sugars, or refined carbohydrates that will raise the triglyceride levels of the patient.

Consuming foods that have Omega- 3 essentials such as fish oils has proved to help in reducing the levels of the triglyceride. There is also drug therapy that can be beneficial in lowering the cholesterol level or plasma triglyceride when the diet is not effective. Carnosine or anserine-free diet is recommended.

Treatments for Carnosinemia are symptomatic or supportive. That is why genetic counseling is recommendable for the Carnosinemia patient and their family.


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