Carnosinase deficiency
Overview
Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
Symptoms
The list of signs and symptoms mentioned in various sources for Carnosinase deficiency includes the 8 symptoms listed below: * Myoclonic seizures * Grand mal seizures * Severe psychomotor retardation * Carnosinase deficiency * Severe mental retardation * Growth retardation * Motor retardation * Progressive neurological damage
Treatment
The first goal is to identify and treat any underlying problem such as diabetes. If no underlying problem exists, the primary treatment for types II, III, and IV is dietary management, especially restriction of cholesterol intake, simple sugars, and refined carbohydrates that will elevate triglyceride levels. Omega-3 essential fatty acids (fish oils) have proved useful in reducing serum triglycerides. Drug therapy (cholestyramine, clofibrate, or pharmaceutical non-flush niacin) may also be used to lower the plasma triglyceride or cholesterol level when diet alone is ineffective.