1/213. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. glycogen storage disease confined to the heart due to cardiac phosphorylase kinase deficiency causes a fatal infantile cardiomyopathy. cardiomegaly can be detected in utero and is progressive. Electrocardiographic and echocardiographic findings are characteristic but not specific; these include large QRS complexes, short PR interval, and a hypertrophic nonobstructive pattern. Conclusive diagnosis requires biochemical analysis of myocardium, which may not be possible premortem due to the amount of tissue required. Pathologic examination of a standard cardiac biopsy can provide a presumptive diagnosis. There is no current treatment except a heart transplant. Infants succumb to heart failure and/or respiratory compromise due to pulmonary compression. This is a rare entity; only three cases have been reported to our knowledge. We report two additional cases. ( info) |
2/213. glycogen storage disease and von Willebrand's disease implications for dental treatment: dental management of a pediatric patient. Glycogen storage diseases (GSD) are metabolic disorders which impair the body's ability to store glucose and utilize it later, requiring patients to take multiple daily dietary supplementation with a high carbohydrate content. patients undergoing this treatment modality are placed at increased risk for gross dental caries and other oral abnormalities. Additionally, GSD may prolong the patient's bleeding time, which may necessitate consultation with the treating physician. In the following case, our patient required a multidisciplinary approach to address not only her dental needs, but also to coordinate the management of both her GSD and an additional complication, von Willebrand's disease. This was best achieved in a hospital setting. ( info) |
3/213. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have been described thus far, two in African-American families and one in a Caucasian family. In two of them, manifesting heterozygotes were documented. We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic. ( info) |
4/213. The dietary treatment of hepatic glycogen synthetase deficiency. A child with glycogen synthetase deficiency has been treated for one year by more frequent feeding with a diet lower in carbohydrate and higher in protein than her previous diet. This treatment virtually abolished the overnight hyperketonaemia and daytime hyperglycaemia which occurred before treatment. On the new dietary regime the child has had no clinical symptoms of hypoglycaemia and her growth velocity has increased dramatically. ( info) |
5/213. Type IV glycogenosis - a study of two cases. liver biopsy materials of two siblings with type IV glycogenosis were studied by light and electron microscopy. Biochemical analysis was added using autopsy material in one of the two cases. Two kinds of polysaccharides were noted not only in the cardiac muscle, skeletal muscles, smooth muscles and reticuloendothelial cells, but also in the neutrophils and platelets. One was glycogen and the other was similar to amylopectin. Ultrastructurally, a large amount of fibrils, 60 A in width, glycogen rosettes and glycogen granules were detected in those cells. Branching glycosyltransferase deficiency was biochemically confirmed in one case examined. ( info) |
6/213. adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle. We established muscle-tissue cultures from biopsy of a patient with adult-onset acid maltase deficiency. Morphologically and biochemically, the newly grown fibers of the cultured muscle showed the same abnormalities as those of the biopsied muscle. light microscopy showed multiple vacuoles filled with acid-phosphatase-positive material; on ultrastructural examination there was abnormal accumulation of glycogen in membrane-bound sacs (secondary lysosomes), some of which also contained dark membranous of homogeneous material. Acid maltase (pH 4.0), a lysosomal enzyme, was undetectable in either cultured or biopsied muscle by maltose hydrolysis, whereas acid phosphatase, also a lysosomal enzyme, was increased in both sources of muscle cells. Cultured muscle fibers demonstrate the same morphologic and biochemical abnormalities characteristic of biopsied muscle, supporting the concept of a biochemically distinct primary myopathy in man. ( info) |
7/213. Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease. Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis. ( info) |
8/213. Rectal biopsy in type 4 glycogenosis. An ultrastructural cytochemical study. Rectal biopsy material from a patient with type 4 glycogenosis was studied by ultrastructural cytochemical methods. The diagnosis of the disease was made on the basis of the patient's clinical history, the autopsy findings, and the histopathological features. Numerous large macrophages were observed in the rectal mucosa. They contained large vacuoles filled with filamentous material and small granules. This amylopectin was stained by the Thiery method (periodic acid-thiocarbohydrazide-silver proteinate) after 18 hours of exposure to thiocarbohydrazide; only 30 minutes was sufficient to demonstrate seemingly normal beta-glycogen particles in epithelial cells. ( info) |
| Three brothers, aged 17, 14 and 4 ye presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be performed in the youngest sibling. ( info) |
10/213. Myophosphorylase deficiency: two different molecular etiologies. Two different forms of myophosphorylase deficiency (McArdle's disease) can be distinguished through the presence or absence of the protein subunit corresponding to phosphorylase in muscle extracts analyzed by sodium dodecyl sulfate (SDS) polyacrylamide gel electrophoresis. Two patients showed a complete absence of the phosphorylase protein subunit, while another patient had an increased quantity of an apparently defective phosphorylase protein subunit. On the basis of these observations, the existence of two distinct subtypes of phosphorylase deficiency can be inferred. ( info) |