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Federación Mexicana de Ginecología y Obstetricia, A.C.

2020, Number 07

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Ginecol Obstet Mex 2020; 88 (07)

Pompe disease: carrier detection in a southeastern state of Mexico: a case report

Hernández-Morales MJ, Domínguez-Morales E, García-Pérez LU, Martínez-Hernández CM

Language: Spanish
References: 15
Page: 484-487
PDF size: 186.38 Kb.


ABSTRACT

Background: Pompe's disease is an autosomal recessive disease of glycogen metabolism; caused by partial or total deficiency of the lysosomal enzyme alphaglucosidase 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.


REFERENCES

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