infantile-onset pompe disease

Infantile-onset Pompe disease with neonatal debut

Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. Patient concerns:We report a case of a newborn with infantile-onset Pompe disease diag...

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...

Infantile-Onset Pompe Disease: The Care Beyond the Cure.

In classic infantile-onset Pompe disease (IOPD), symptoms start early in life, and there is a fatal outcome if the disease remains untreated.1 Enzyme replacement therapy (ERT) with recombinant human GAA remains the single treatment favouring a prolonged life expectancy.2–4 To our knowledge, there have been no studies investigating the role of an early and intensive global rehabilitation program...

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy

S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease

patients identified by the neonatal screening and treated earlier than historical patients showed improved outcome in terms of motor activity and ventilatory-free survival. The immune status of PD patients has emerged as another important factor that impacts ERT efficacy. In a recent study the effects of ERT in 11 cross-reactive immunological material (CRIM) negative patients were compared with...

The infantile-onset form of Pompe disease: an autopsy diagnosis

Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe. The prevalence of PD ranges from 1:40,000 to 1:300,000 births and depends on geographic and ethnic factors. Clinical manifestations may vary from a rapidly progressive disa...