Carnosinemia. Carnosinase deficiency
Incidence
Autosomal recessive inheritance. Serum carnosinase deficiency has been reported in about 30 individuals.
Clinical Characteristics
Carnosinemia is a very rare inherited metabolic disorder characterized by impaired neurological function and developmental delays. Symptoms that begin during infancy may include drowsiness, seizures that may be accompanied by involuntary jerking muscle movements of the arms, legs, or head (myoclonic seizures), and mental retardation. Serum carnosinase deficiency has been reported in about 30 individuals. Most of them showed a variable psychomotor retardation. Some did not present any symptom. Therefore it is doubtful whether there is any relationship between the metabolic defect and the clinical picture.
Precipitants
None
Provocation Tests
None. Not sure if eating meat will increase significantly the carnosine levels in serum and urine.
Diagnostic Procedures
EB-B. There is a deficiency of serum carnosinase. Aminoacids is serum and urine make the diagnosis after exclusion of meat from the diet.