Sudden infant death syndrome (SIDS) in a family with myosphosphorylase deficiency

El-Schahawi, Magda; Bruno, Claudio; Tsujino, Seiichi; Sarrazin, A; Shanske, Sara; Leroux, Maël; DiMauro, Salvatore

doi:10.1016/s0960-8966(97)00424-0

Cited by 23 publications

(7 citation statements)

References 13 publications

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“…The cumulative effect of recurrent muscle damage over the years may explain the appearance of fixed weakness in older individuals; we found that 28 of 52 patients had fixed weakness, and their mean age was 41.5 years, whereas the mean age of nonweak patients was 28.1 years 37. However, we still have no explanation for the severe and rapidly fatal weakness affecting a few infants with apparently isolated myophosphorylase deficiency 40, 48, 91, 95. The occurrence of sudden and unexpected death in an infant with McArdle's disease48 raises the question of whether myophosphorylase deficiency (or other glycogenoses) may have a place among the heterogeneous etiological factors of the sudden infant death syndrome (SIDS).…”

Section: Glycogenoses Causing Exercise Intolerance Cramps and Myoglmentioning

confidence: 99%

Muscle glycogenoses

2001

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There are 11 hereditary disorders of glycogen metabolism affecting muscle alone or together with other tissues, and they cause two main clinical syndromes: episodic, recurrent exercise intolerance with cramps, myalgia, and myoglobinuria; or fixed, often progressive weakness. Great strides have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. In contrast, the pathophysiological mechanisms underlying acute muscle breakdown and chronic weakness remain unclear. Although glycogen storage diseases have been studied for decades, new biochemical defects are still being discovered, especially in the glycolytic pathway. In addition, the pathogenesis of polyglucosan deposition is being clarified both in traditional glycogenoses and in disorders such as Lafora's disease. In some conditions, combined dietary and exercise regimens may be of help, and gene therapy, including recombinant enzyme replacement, is being actively pursued.

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Section: Glycogenoses Causing Exercise Intolerance Cramps and Myoglmentioning

confidence: 99%

Muscle glycogenoses

2001

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“…Recently, the genetics of SIDS has been widely investigated. There are links between some SIDS cases and occult QT syndrome [5], the XL allele variant of the 5-HTT gene [6], upregulation of CYP2C gene transcription [7] and mutation of the myophosphorylase (PPL) gene [8]. Other studies have observed a relationship between medium-chain acyl dehydrogenase (MCAD) deficiency [9] and SIDS.…”

Section: Introductionmentioning

confidence: 99%

Interleukin 10 genotype as a risk factor for sudden infant death syndrome: determination of IL-10 genotype from wax-embedded postmortem samples

Korachi

Pravica

Barson

et al. 2004

FEMS Immunology and Medical Microbiology

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In a previous study an association was shown between SIDS and an interleukin-10 (IL-10) genotype. That study was carried out on frozen, unfixed tissue samples, but these are difficult to obtain. Fixed samples used for pathological examination are available. The purpose of this study was to extend the previous work by establishing methods to extract and genotype DNA from fixed, wax-embedded tissues specimens and to use the results to seek confirmation of the association between IL-10 genotype and SIDS in a larger collection of SIDS babies. Using an amplification refractory mutation system-polymerase chain reaction method, a total of 38 infants were genotyped for IL-10 alleles and compared with controls. There was a significant association between the IL-10 -592*A allele and SIDS, consistent with the earlier findings. This study lends support to the hypothesis that IL-10 genotype is related to the susceptibility of babies to SIDS.

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“…The genotype/phenotype relationship in McArdle's disease remains unclear: the most common genetic defect in typical McArdle patients, R50X, was also found in an infant who had the fatal myopathic variant [11] and in a child who died of sudden infant death syndrome (SIDS) [16]. Of course, one cannot exclude that these unusual presentations may be due to additional gene defects.…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

Metabolic Myopathies

DiMauro

Akman

Paradas

2013

Neuromuscular Disorders in Clinical Practice

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IntroductionInborn errors of glycogen and fatty acid metabolism that cause exclusively or predominantly neuromuscular disorders are characterized by dynamic or static symptoms. Dynamic symptoms are acute, recurrent, reversible muscle dysfunctions, manifesting as exercise intolerance, myalgia with or without painful cramps (contractures), and often culminating in muscle breakdown and myoglobinuria. In contrast, static symptoms are manifested by fixed, often progressive weakness, sometimes simulating dystrophic or neurogenic processes ( Fig. 63.1).To understand glycogen and lipid storage disorders, a brief review of muscle metabolism at rest and during exercise is helpful.The "fuel" utilized by muscle depends on several factors, most importantly the type, intensity, and duration of exercise but also diet and physical conditioning. At rest, muscle utilizes predominantly fatty acids. At the opposite end of the spectrum, the energy for extremely intense exercise (close to one's maximal oxygen uptake, or VO 2 max, in dynamic exercise or close to maximal force generation in isometric exercise) derives from anaerobic glycolysis, especially when there is a "burst" of activity with rapid acceleration to maximal exercise. During submaximal exercise, the type of fuel utilized by muscle depends on the relative intensity of exertion. At low intensity (below 50 % VO 2 max), blood glucose and free fatty acids (FFA) are the primary sources of energy. At higher intensities, the proportion of energy derived from carbohydrate oxidation increases, and muscle glycogen becomes an important fuel; at 70-80 % VO 2 max, aerobic metabolism of glycogen is the crucial source of energy, and fatigue appears to set in when glycogen is exhausted. The type of circulating substrate utilized during mild exercise varies with time, and there is a gradual increase in the utilization of FFA over glucose until, a few hours into

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Sudden infant death syndrome (SIDS) in a family with myosphosphorylase deficiency

Cited by 23 publications

References 13 publications

Muscle glycogenoses

Muscle glycogenoses

Interleukin 10 genotype as a risk factor for sudden infant death syndrome: determination of IL-10 genotype from wax-embedded postmortem samples

Metabolic Myopathies

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