Carnosinase deficiency

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.


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PMID (PMCID)
9029640
 FEMALE
A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency.
Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR.
Pediatr Res. 1997;41(2):210-3.
Several reports of serum carnosinase deficiency describe a variable phenotype, which ranges from normal to severe psychomotor retardation, hypotonia, and myoclonic seizures in the first year of life.