[Sandhoff disease].
A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).
D005260:Female; D006596:Hexosaminidases / Q000172:deficiency; D006801:Humans; D007223:Infant; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
D006596:Hexosaminidases
Enfermedad de Sandhoff.