Carnosinase Deficiency

Definition

Definition of Carnosinase Deficiency
A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.

Symptoms

Symptoms of Carnosinase Deficiency
The list of signs and symptoms for Carnosinase deficiency listed below:

1. Myoclonic seizures
2. Grand mal seizures
3. Severe psychomotor retardation
4. Carnosinase deficiency
5. Severe mental retardation
6. Growth retardation
7. Motor retardation
8. Progressive neurological damage

Causes

Causes of Carnosinase Deficiency
Carnosinase deficiency is a genetic disorder, but the defective chromosome location has not yet been identified.

Diagnosis

Diagnosis of Carnosinase Deficiency
Consult with your doctor.

Treatment

Treatment of Carnosinase Deficiency
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.

Prognosis

Prognosis of Carnosinase Deficiency
Consult with your doctor.

Prevention

Prevention of Carnosinase Deficiency
Consult with your doctor.