Identification of two subtypes of infantile acid maltase deficiency

Pompe disease diagnosis and management guideline

“…In an attempt towards establishing a uniform terminology, we broadly classify Pompe disease as follows: infantile form that includes

patients as originally described by PJ Pompe, a Dutch pathologist, in 19324 who exhibit rapidly progressive disease characterized by prominent cardiomegaly, hepatomegaly, weakness and hypotonia, and death due to cardiorespiratory failure in the first year 5,6. This represents the most severe end of the disease spectrum and is often referred to as classic infantile Pompe disease.

patients with the infantile variant form (nonclassic infantile Pompe disease) with slower progression and less severe cardiomyopathy but presenting in the first year of life as described originally by Hers1 and, more recently, by Slonim et al7 and which has also been variably classified in the literature with the infantile or childhood forms (discussed below). late-onset form that includeschildhood, juvenile, or muscular variant that is a heterogeneous group usually presenting later than infancy and typically not including severe cardiomyopathy.adult-onset form characterized by a slowly progressive myopathy predominantly involving skeletal muscle that can present as late as the second to sixth decade of life.…”

“…patients with the infantile variant form (nonclassic infantile Pompe disease) with slower progression and less severe cardiomyopathy but presenting in the first year of life as described originally by Hers1 and, more recently, by Slonim et al7 and which has also been variably classified in the literature with the infantile or childhood forms (discussed below).…”

“…For patients with late-onset Pompe disease, the goal is intended to manage 1) the increasing accumulation of glycogen and 2) the increase in amino acid utilization 7,11. Slonim et al63,64 have observed that a high protein-low carbohydrate diet plus aerobic exercise, can be beneficial to some of these patients (see cautions on limits of exercise in the Musculoskeletal/Functional/Rehabilitation section).…”

Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

“…The nomenclature for nonclassic infantile-onset Pompe disease is also variable. Slonim et al defined "nontypical" infantile-onset Pompe disease as those with less severe cardiomyopathy and longer survival of 1-2 years (Slonim et al 2000). Others have used "atypical infantile-onset Pompe disease" to characterize patients who have symptom onset before 1 year of age but with no cardiomyopathy (Bembi et al 2008;Kishnani et al 2012).…”

Two cases of Pompe's disease: case report and review of literature

“…Partial deficiency leads to a milder late onset phenotype. 4,5 The latter condition may present at any age and is subdivided into non-classical infantile, childhood, juvenile, and adult Pompe's disease. Infantile Pompe's disease is a rapidly progressive disease, characterised by prominent cardiomegaly, hepatomegaly, weakness and hypotonia, and death due to cardiorespiratory failure in the first year.…”