title: Hypertransaminasemia and fatal lung disease: a case report.
abstract: Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe cardiac involvement, generalized hypotonia and exitus early in life. Presenting symptoms and signs of the disease may be neglected or underestimated, thus delaying the diagnosis. Respiratory manifestations mainly occur because of respiratory muscle weakness. However, additional mechanisms can favor the development of pulmonary complications that result in fatal respiratory failure. We herein describe a case of an infant with glycogenosis type II presenting with hepatomegaly and hypertransaminasemia, who rapidly developed fatal lung disease.
authors: Department of Pediatrics, Federico II University, Naples, Italy. santamar@unina.it
authors: Francesca
authors: F
authors: Santamaria
authors: Sara
authors: S
authors: De Stefano
authors: Silvia
authors: S
authors: Montella
authors: Marco
authors: M
authors: Maglione
authors: Roberto
authors: R
authors: Della Casa
authors: Emma
authors: E
authors: Acampora
authors: Claudio
authors: C
authors: Pignata
authors: Mariacarolina
authors: M
authors: Salerno
authors: Giancarlo
authors: G
authors: Parenti
mesh_terms: D015415:Biomarkers / Q000097:blood; D006332:Cardiomegaly / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000235:genetics; D009154:Mutation; D001261:Pulmonary Atelectasis / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics*; D000637:Transaminases / Q000097:blood / Q000235:genetics*; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D015415:Biomarkers; D000637:Transaminases; C509951:GAA protein, human; D000520:alpha-Glucosidases
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