Carnosinemia
A rare metabolic disorder
Carnosinemia | |
---|---|
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Synonyms | Carnosinase deficiency, Aminoacyl-histidine dipeptidase deficiency |
Pronounce | |
Field | Metabolic disorders, Medical genetics |
Symptoms | Developmental delay, hypotonia, seizures, intellectual disability, tremors |
Complications | Neurological impairment, motor coordination difficulties |
Onset | Infancy |
Duration | Lifelong |
Types | |
Causes | Mutations in the CNDP1 gene leading to carnosinase enzyme deficiency |
Risks | Autosomal recessive inheritance |
Diagnosis | Urine and plasma amino acid analysis, genetic testing |
Differential diagnosis | Other metabolic disorders, neuromuscular disorders |
Prevention | None known |
Treatment | Supportive care, physical therapy |
Medication | Anticonvulsants for seizure control (if applicable) |
Prognosis | Varies; may lead to lifelong neurological issues |
Frequency | Extremely rare |
Deaths | Rare; dependent on severity of neurological complications |

Carnosinemia is a rare metabolic disorder characterized by elevated levels of carnosine in the blood and urine. This condition is caused by a deficiency of the enzyme carnosinase, which is responsible for breaking down carnosine into its constituent amino acids, beta-alanine and histidine.
Pathophysiology[edit | edit source]
Carnosinemia results from a deficiency in the enzyme carnosinase, specifically the cytosolic form known as CNDP1. Carnosinase is responsible for the hydrolysis of carnosine, a dipeptide composed of beta-alanine and histidine. In individuals with carnosinemia, the lack of functional carnosinase leads to the accumulation of carnosine in the blood and urine.
Carnosine is found in high concentrations in muscle and brain tissues, where it plays a role in buffering pH and acting as an antioxidant. However, its accumulation in the bloodstream due to carnosinase deficiency can lead to various neurological and developmental symptoms.
Clinical Features[edit | edit source]
The clinical presentation of carnosinemia can vary, but common symptoms include:
- Developmental delay
- Intellectual disability
- Seizures
- Hypotonia (reduced muscle tone)
- Ataxia (lack of voluntary coordination of muscle movements)
The severity of symptoms can vary widely among affected individuals, and some may present with only mild symptoms.
Diagnosis[edit | edit source]
Diagnosis of carnosinemia is typically made through biochemical analysis of blood and urine, revealing elevated levels of carnosine. Genetic testing can confirm mutations in the CNDP1 gene, which encodes the carnosinase enzyme.
Treatment[edit | edit source]
There is currently no specific treatment for carnosinemia. Management of the condition is primarily supportive and symptomatic. This may include:
- Anticonvulsant medications to control seizures
- Physical therapy to improve motor skills and muscle tone
- Special education programs to address developmental delays
Prognosis[edit | edit source]
The prognosis for individuals with carnosinemia varies depending on the severity of the symptoms. Early intervention and supportive therapies can improve quality of life and developmental outcomes.
Related pages[edit | edit source]
External links[edit | edit source]
Classification | |
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Contributors: Prab R. Tumpati, MD