Lysosomal glycogen storage disease with normal acid maltase

  title={Lysosomal glycogen storage disease with normal acid maltase},
  author={Moris J. Danon and S. J. Oh and Salvatore Dimauro and Jose R. Manaligod and Abraham B. Eastwood and Sakkubai Naidu and Louis H. Schliselfeld},
  pages={51 - 51}
Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently… Expand
Lysosomal glycogen storage disease without acid maltase deficiency
A characteristic clinical picture emerged from evaluation of two brothers with lysosomal glycogen storage disease without acid maltase deficiency in skeletal muscle, which is manifested by proximal muscle weakness, hypertrophic cardiomyopathy, probable intellectual impairment, and possible liver involvement. Expand
Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome
In a male infant who had cardiomyopathy, generalized muscle weakness and increased serum creatine kinase levels, his muscle biopsy revealed myopathic changes with tiny intracytoplasmic vacuolesExpand
Fatal infantile glycogen storage disease
A girl with congenital limb weakness, mental retardation, and corneal ulceration died with respiratory insufficiency at age 4 years with increased glycogen content of muscle with lack of phosphofructokinase. Expand
[Lysosomal glycogen storage disease without acid maltase deficiency].
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  • Biology, Medicine
  • Nihon rinsho. Japanese journal of clinical medicine
  • 1995
From abnormal lectin staining patterns on the membrane and preclinical morphologic changes in biopsied skeletal muscle, membranous abnormality is suspected in this disease. Expand
Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant
It is proposed that skeletal muscle should be examined in young patients with hypertrophic cardiomyopathy and female relatives of males with the disease should be investigated for cardiopathy; they would be excellent candidates for life-saving heart transplant, since myopathy and mental retardation, if clinically evident, are mild. Expand
Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles.
A 5-year-old boy with lysosomal glycogen storage disease and normal acid maltase activity is reported, illustrating the importance of performing skeletal muscle investigation during childhood in patients with hypertrophic cardiomyopathy. Expand
Case report: lysosomal glycogen storage disease with normal acid maltase: an unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure.
A 14-year-old boy with mild mental retardation, myopathy, and nonobstructive hypertrophic cardiomyopathy (HCM) with clinical and histopathologic features consistent with lysosomal glycogen storageExpand
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy Abnormal MRI findings in the head
A 21-year-old man with childhood-onset mental retardation, non-obstructive hypertrophic cardiomyopathy, and vacuolar myopathy is presented, and magnetic resonance imaging findings in the head revealed the involvement of the central nervous system. Expand
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
The present report appears to be the first one to describe a rapidly fatal neonatal form of lysosomal glycogenosis without acid maltase deficiency, and the delineation of neonatal pseudo-Pompe disease makes enzymatic confirmation mandatory in each case suspected of Pompe disease. Expand
Lipid storage myopathy in infantile Pompe's disease.
Biochemical studies failed to determine the cause of the lipid accumulation, but demonstrated a low total concentration of carnitine in the muscle, associated with elevated activities of Carnitine palmityl-transferase and palmityL-coenzyme A dehydrogenase. Expand


The adult form of acid maltase (α‐1,4‐glucosidase) deficiency
The findings in this patient suggest that in the adult from of acid maltase deficiency a significant neurogenic component may contribute to muscle wasting and weakness, presumably because of involvement of spinal motoneurons. Expand
Adult‐onset acid maltase deficiency: A postmortem study
Kinetic characteristics, and inhibition by antibodies and Zn++, showed that the residual activity was “authentic” acid maltase, which may explain the selective involvement of this tissue in late‐onset AMD. Expand
The spectrum and diagnosis of acid maltase deficiency
This paper compares the infantile, childhood and adult cases of acid maltase deficiency and considers the diagnostic methods. Expand
Cardiac hypertrophy caused by glycogen storage disease in a fifteen-year-old boy
Abstract Evidence is presented which suggests that some cases of idiopathic hypertrophy of the heart, described in the older literature, represent end stages of glycogenosis of the heart, and thatExpand
Residual acid maltase activity in late‐onset acid maltase deficiency
The presence of acid maltase activity in muscle, liver, and, to a greater extent, leukocytes in late-onset but not infantile kcid maltase deficiency and the failure of the two disease forms to occur in the same family suggest that they are genetically distinct. Expand
A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease).
A method enabling prenatal diagnosis of glycogenosis II (Pompe's disease) within 7–10 days after amniocentesis in the 14th–16th week of pregnancy is described. Expand
Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts.
  • A. Kaplan, D. Achord, W. Sly
  • Chemistry, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1977
Evidence is presented that alkaline phosphatase treatment of human platelet beta-glucuronidase abolished its "high-uptake" activity, without diminishing its catalytic activity, and converted some forms of the heterogeneous enzyme to less acidic forms. Expand
The quantitative enzymic determination of animal liver glycogen.
Abstract A previously reported enzymic technique has been applied to the quantitative determination of glycogen in animal liver and the results have been evaluated. The results of analysis ofExpand
Recognition and receptor-mediated uptake of a lysosomal enzyme, α-l-iduronidase, by cultured human fibroblasts
Preliminary experiments suggest that even the "low uptake" form of α-l-iduronidase may be taken up by receptor binding, although with much lower affinity. Expand
A rapid micro assay method for amylo-1,6-glucosidase.
The method was found to be entirely specific for amylo-1,6-glucosidase in tissue extracts and to erythrocyte hemolyzates as well as to purified enzyme. Expand