Hyper beta-carnosinemia is a rare inborn error in the metabolism of a dipeptide called carnosine that results in the accumulation of carnosine in muscle and brain tissues.
- Carnosine is formed of the amino acids alanine and histidine.
- The disease is confirmed with an amino-acid analysis of the blood.
- The affected individuals develop the symptoms of the disease within a year from birth.
- The deficiency is caused by mutations to the genetic code for the enzyme, carnosinase.
- Carnosinase, which is synthesized in every tissue of the body, is the enzyme that metabolizes carnosine.
- Hitherto, there is no epigenetic or environmental factor identified to associate with the disease. However, a meat-free diet reduces the risk of worsening the symptoms.
- The root cause of the disease is mutations in the gene that instruct the biosynthesis of carnosinase.
- It inherits in an autosomal recessive fashion.
- The extent of risk of the incidence of the disorder depends on whether the mutant is homozygous or heterozygous in the person.
- If the parents are both homozygous for the mutant, all their children are born with the disorder.
- If one of the parents is affected and the other is a carrier, one in four children is likely to be affected while the rest are carriers.
Tremors,Developmental delay,Mental retardation,Hypotonia,Sensory neuropathy,Myoclonic seizures,Loss of purkinge fibres,Axonal abnormalities