Cognitive Outcome of Infants with Pompe Disease Receiving Enzyme-Replacement Therapy
نویسندگان
چکیده
منابع مشابه
Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy
Methods We prospectively assessed cognitive functioning in 10 children with classic infantile Pompe disease who had been treated with ERT since 1999. Until 2004, infants and young children were assessed with the Bayley Scales of Infant Development (BSID-II; number of tests = 23). After 2004, we switched to the Griffiths Mental Developmental Scales (Griffiths; number of tests = 19), expecting it...
متن کاملCognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.
OBJECTIVE Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first year. Although enzyme-replacement therapy (ERT) significantly increases survival, its potential limitation is that the drug cannot cross the blood-brain barrier. We therefore investigated long-term cognitive development in patients treated with ERT. METHODS We prospect...
متن کاملEnzyme replacement therapy (ERT) in pompe disease
Pompe disease (OMIM 232300) is an AR glycogenosis due to deficiency of the lysosomal enzyme alpha-glucosidase (GAA). As a result, glycogen storage occurs in muscles and patients present a wide clinical spectrum ranging from early onset severe cardiomyopathy (EOPD) to adult onset forms (LOPD). Severe loss of GAA activity correlates with early onset and severe phenotypes. Residual enzyme activity...
متن کاملImmune modulation in Pompe disease treated with enzyme replacement therapy.
Pompe disease is a lysosomal storage disease characterized by massive glycogen deposition in skeletal, cardiac and smooth muscle secondary to the deficiency of acid α-glucosidase (GAA) [1]. Once rapidly fatal, it has become a treatable condition since the development of enzyme replacement therapy (ERT) with alglucosidase α (recombinant human GAA [rhGAA], Myozyme/Lumizyme Genzyme Corp. Cambridge...
متن کاملA 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...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2012
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-26-6-5