carnosinemia

carnosinemia
carnosinemia
deficiencia de carnosinasa con aumento de carnosina en la sangre. La sintomatología clínica varía desde un retraso mental grave hasta la normalidad. En un caso se observó miopatía, y en otros, alteración de la función visual.

Diccionario ilustrado de Términos Médicos.. . 2010.


Diccionario médico. 2013.

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