+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Glycogen storage diseases of muscle problems in biochemical genetics

, : Glycogen storage diseases of muscle problems in biochemical genetics. Birth Defects Original Article Series 7(2): 43-51

The glycogen storage diseases of muscle are the only inherited diseases of muscle in which the biochemical abnormalities are known. Despite impressive advances in knowledge during the past decade there are vital gaps in understanding. In none of these diseases is treatment satisfactory. In none of these disorders can theory relate the symptons of the disease (weakness, cramps, myoglobinuria) to the enzymatic defect. In several there are biochemical abnormalties that do not permit explanation in terms of the enzymatic defect. Individual patients and families do not fit into simple schemes of genetic and biochemical analysis. Different proteins have the same enzymatic activities in different organs, apparently under separate genetic control. One enzyme in particular, acid maltase, plays an uncertain role in the normal metabolism of glycogen; lack of this enzyme in the infantile Pompe's disease and myopathies of later onset are of uncertain significance. For these reasons, and others, there is much to be learned about these diseases wer know best. About more common diseases like the muscular dystrophies, we know even less. It is one thing to deliver medical care and something else to have medical care to deliver.


PMID: 4281320

Other references

Kachanoski, R.G.; Fairchild, G.L.; Beauchamp, E.G., 1996: Yield indices for corn response to applied fertilizer: application in site-specific crop management. Different maize yield indices were examined as predictors of maximum economic rate of N (MERN) application to develop a predictive relationship for MERN based on the most useful of these indices and to evaluate the potential usefulness of these in...

Margesin, R.; Fell, J.W., 2008: Mrakiella cryoconiti gen. nov., sp. nov., a psychrophilic, anamorphic, basidiomycetous yeast from alpine and arctic habitats. A novel psychrophilic basidiomycetous species is described in a new anamorphic genus as <i>Mrakiella cryoconiti</i> gen. nov., sp. nov.; the type strain of <i>Mrakiella cryoconiti</i> is strain A15<sup>T</sup> (...

Myers, C.B.; Christmann, L.M., 1991: Rat bite--an unusual cause of direct trauma to the globe. Journal of Pediatric Ophthalmology and Strabismus 28(6): 356-358

Wikman, J.; Blennow, A.; Buléon, A.; Putaux, J-Luc.; Pérez, S.; Seetharaman, K.; Bertoft, E., 2016: Influence of amylopectin structure and degree of phosphorylation on the molecular composition of potato starch lintners. Morphology, molecular structure, and thermal properties of potato starch granules with low to high phosphate content were studied as an effect of mild acid hydrolysis (lintnerization) to 80% solubilization at two temperatures (25 and 45°C). Light...

Kubo; Kishi, 1988: Existence of long range order in the XXZ model. Physical Review Letters 61(22): 2585-2587

Watanuki, S.; Matsuda, N.; Jesmin, S.; Hattori, Y.; Fukui, H., 2003: Species and regional differences in cardiac histamine receptors Immunoblot and immunohistochemical analysis. Journal of Pharmacological Sciences 91(Supplement I): 142P

Dennis, S.G.; Melzack, R.; Gutman, S.; Boucher, F., 1980: Pain modulation by adrenergic agents and morphine as measured by 3 pain tests. The effects of several adrenergic agents on pain and morphine analgesia were assessed using 3 pain tests in rats. These tests.sbd.tail-flick, hot-plate and formalin.sbd.allow comparison of the effects of different noxious stimuli and different mot...

Zenisek, L., 1951: Excretion of pregnandiol in the menstrual cycle. Ceskoslovenska Gynekologie 16(2): 103-111

Winter, V.; Freund, D., 1969: Fluorescence-immunohistological and immunological studies in a case of tetracycline allergy. Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und Verwandte Gebiete 20(2): 74-77

Shijo, H.; Hisano, S.; Sasaki, H.; Yuh, K.; Kusuhara, H.; Sakaguchi, S.; Okumura, M.; Sakata, H., 1989: Detection of pulmonary telangiectasia using dynamic pulmonary perfusion imaging in patients with liver cirrhosis. Two cases of liver cirrhosis associated with marked hypoxemia are presented. Chest radiographs and cardiopulmonary function showed no abnormalities, except for the low diffusion capacity of carbon monoxide and slight elevation of the shunt ratio (...