Identification of two subtypes of infantile acid maltase deficiency.
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.
Department of Pediatrics, North Shore University Hospital, New York University School of Medicine, Manhasset, New York 11030, USA.
A E
AE
Slonim
L
L
Bulone
S
S
Ritz
T
T
Goldberg
A
A
Chen
F
F
Martiniuk
D017668:Age of Onset; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000145:classification* / Q000150:complications / Q000175:diagnosis* / Q000401:mortality / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009519:New York City / Q000453:epidemiology; D011379:Prognosis