Carnosinemia
Overview
Carnosinemia: Excessive amounts of carnisine in the blood.
Symptoms
A variety of neurological symptoms have been associated with carnosinemia. They include: hypotonia, developmental delay, mental retardation, degeneration of axons, sensory neuropathy, tremors, demyelinization, gray matter anomalies, myoclonic seizures, and loss of purkinje fibers
Diagnosis
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.
Treatment
No efficient treatment is available, and it remains uncertain whether treatment is necessary.