An alliance of individuals and organizations working together to prevent Jewish Genetic Diseases through education, awareness and screening

Diseases Common to all Jewish Groups

Ashkenazi Jewish Diseases

Sephardic-Mizrahi Diseases

Carnitine Palmitoyltransferase ll Deficiency

Carnitine Palmitoyltransferase II Deficiency [CPT2]: Characterized by recurrent episodes of myalgia and rhabdomyolysis causing myoglobinuria which may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Episodes can damage the kidneys, in some cases leading to life-threatening kidney failure.

Ashkenazi Jewish Carrier Frequency: 1 inĀ 45

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