Which are the symptoms of Carnosinemia?

Carnosinemia is a rare genetic disorder characterized by the accumulation of an amino acid called carnosine in the body. This condition is caused by a deficiency of the enzyme carnosinase, which is responsible for breaking down carnosine. As a result, carnosine levels become elevated in the blood, urine, and tissues.

Symptoms of Carnosinemia:

1. Developmental Delay: Infants with carnosinemia may experience delays in reaching developmental milestones such as sitting, crawling, or walking. These delays can vary in severity and may be accompanied by intellectual disability.

2. Intellectual Disability: Cognitive impairment is a common feature of carnosinemia. Individuals may have learning difficulties, impaired speech and language skills, and reduced intellectual functioning.

3. Seizures: Epileptic seizures can occur in individuals with carnosinemia. These seizures may manifest as convulsions, loss of consciousness, muscle spasms, or abnormal movements. The frequency and severity of seizures can vary among affected individuals.

4. Behavioral Issues: Some individuals with carnosinemia may exhibit behavioral problems such as hyperactivity, attention deficit hyperactivity disorder (ADHD), impulsivity, aggression, or self-injurious behaviors.

5. Speech and Language Difficulties: Impaired speech and language skills are commonly observed in individuals with carnosinemia. They may have difficulties with articulation, vocabulary, grammar, and comprehension.

6. Muscle Weakness: Carnosinemia can lead to muscle weakness and poor muscle tone (hypotonia). This can affect motor skills, coordination, and overall physical strength.

7. Vision Problems: Some individuals with carnosinemia may experience vision problems such as nearsightedness (myopia), farsightedness (hyperopia), or other visual impairments.

8. Skin Abnormalities: Certain skin abnormalities have been reported in individuals with carnosinemia, including dry skin, eczema, or unusual pigmentation.

9. Gastrointestinal Issues: Digestive problems such as poor appetite, vomiting, diarrhea, or constipation may occur in some individuals with carnosinemia.

10. Other Features: Additional features that have been observed in a subset of individuals with carnosinemia include low muscle mass, short stature, joint stiffness, and abnormal liver function tests.

It is important to note that the severity and combination of symptoms can vary widely among individuals with carnosinemia. Some individuals may have mild symptoms, while others may experience more significant impairments.

If carnosinemia is suspected, it is crucial to consult with a healthcare professional for a comprehensive evaluation, diagnosis, and appropriate management of the condition. Genetic testing can confirm the diagnosis of carnosinemia by identifying mutations in the carnosinase gene.