[The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases].

Abstract excerpt

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency is transmitted as an X-linked recessive trait. Female carriers are asymptomatic and the carrier diagnosis is usually performed by determining HGPRT activity in hair roots. This technique does not allow a non-carrier state diagnosis with absolute certainty and has other limitations such as obtaining non-viable hair roots. The knowledge of the...

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