Combination of two different homozygote mutations in Pompe disease

Combination of two different homozygote mutations in Pompe disease

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...

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Bibliographic Details
Published in:Pediatrics international Vol. 58; no. 3; pp. 241 - 243
Main Authors: Arslan, Alev, Poyrazoğlu, Hatice Gamze, Kiraz, Aslihan, Özcan, Alper, Işık, Halid, Ergul, Ayse Betül, Mungan, Neslihan Önenli, Streubel, Berthold, Ceylaner, Serdar, Altuner Torun, Yasemin
Format: Journal Article
Language:English
Published: Australia Blackwell Publishing Ltd 01-03-2016
Subjects:
alpha-Glucosidases - genetics
alpha-Glucosidases - metabolism
DNA - genetics
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Glucosidase
Glycogen
Glycogen Storage Disease Type II - genetics
Hereditary diseases
Homozygote
Humans
hypertrophic cardiomyopathy
Infant
infantile Pompe disease
Metabolic disorders
Mutation
novel mutation
Pediatrics
Phenotype
infantile Pompe disease
novel mutation
hypertrophic cardiomyopathy
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Summary: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.
Bibliography:istex:638961F5A01FC38F728D6F6E2327605950ADD893
ark:/67375/WNG-MVCSNQ9P-5
ArticleID:PED12873
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1328-8067
1442-200X
DOI:10.1111/ped.12873