Identification of two subtypes of infantile acid maltase deficiency.
case_series · Level IV
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- Record sourced from PubMed, PMID 10931430.
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Abstract
Infantile patients with acid maltase deficiency have severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, and generalized muscle weakness and die before 1 year of age. We identified 12 infants with acid maltase deficiency who had a similar clinical presentation but less severe cardiomyopathy and absence of left ventricular outflow obstruction, and 9 of 12 had longer survival with assisted ventilation and supplemental intubation.
Medical subject headings
- Age of Onset
- Female
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type II/classification
- Glycogen Storage Disease Type II/complications
- Glycogen Storage Disease Type II/diagnosis
- Glycogen Storage Disease Type II/mortality
- Glycogen Storage Disease Type II/pathology
- Humans
- Infant
- Male
- New York City
- New York City/epidemiology
- Prognosis