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Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.
ORPHA:1361Classification level: Disorder
About 30 individuals have been reported worldwide.
The gene associated with this disease has not been identified. The majority of the patients showed variable degrees of intellectual deficit. Some patients had seizures and one had congenital myopathy. A few patients had no symptoms at all.
Diagnosis is based on amino acid analysis of serum and/or urine after exclusion of meat from the diet, and enzymatic testing.
The differential diagnosis includes gamma-amino butyric acid (GABA) transaminase deficiency.
Autosomal recessive inheritance has been suggested.
Management and treatment
No efficient treatment is available, and it remains uncertain whether treatment is necessary.