AI Article Synopsis
- Pompe disease is a genetic disorder characterized by the accumulation of glycogen in lysosomes due to a deficiency in the enzyme lysosomal acid α-glucosidase, inherited in an autosomal recessive manner.
- The case reports an 8-month-old girl from Turkish parents with the infantile form of Pompe disease, who exhibited an unexpectedly progressive clinical course.
- Two uncommon homozygous mutations were identified in the patient (c.32-13 T > G and c.1856G > A), highlighting a rare genetic combination within this family.
Article Abstract
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.
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| http://dx.doi.org/10.1111/ped.12873 | DOI Listing |
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