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Combination of two different homozygote mutations in Pompe disease
Author(s) -
Arslan Alev,
Poyrazoğlu Hatice Gamze,
Kiraz Aslihan,
Özcan Alper,
Işık Halid,
Ergul Ayse Betül,
Mungan Neslihan Önenli,
Streubel Berthold,
Ceylaner Serdar,
Altuner Torun Yasemin
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12873
Subject(s) - medicine , heterozygote advantage , glycogen storage disease type ii , disease , enzyme replacement therapy , compound heterozygosity , lysosomal storage disease , mutation , glycogen storage disease , consanguineous marriage , lysosome , genetics , rare disease , fabry disease , hypophosphatasia , gene , pediatrics , enzyme , consanguinity , genotype , biochemistry , biology , alkaline phosphatase
Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1‐glucosidase enzyme. Here we report the case of an 8‐month‐old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32‐13 T > G homozygote and c.1856G > A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.