BACKGROUND:

Pompe’s disease is an autosomal recessive disease of glycogen metabolism; caused by partial or total deficiency of the lysosomal enzyme alpha-glucosidase acid (GAA). Its incidence is variable and depends on the geographical region and ethnicity.

OBJECTIVE:

Report a case of previously described mutation in Mexican population related to Pompe disease.

CLINICAL CASE:

A 21-year-old female who attends first-time genetics services, with reference to a health center due to a history of two perinatal deaths. An evaluation of the couple is performed, with a history of the importance of consanguinity (first cousins), a gynecoobstetric history: pregnancy 2, births 2. Two perinatal deaths due to cardiomyopathy of unknown cause. Ultrasound findings of previous pregnancies, without report of alterations. A physical examination of both patients, without phenotypic alteration. Due to the aforementioned background, it is decided to search for carriers of Pompe disease in the maternal branch.

CONCLUSION:

In this case the detection and diagnosis of carriers of inborn errors of metabolism, the antecedents collected in the clinical history (perinatal deaths, consanguinity) were taken into consideration. Publicizing a mutation previously described in the Mexican population, which is related to Pompe disease.