Apport de l'etude des echanges gazeux respiratoires au cours de l'exercice dans le diagnostic d'une glycogenose musculaire

Translated title of the contribution: Pulmonary gas exchange during exercise and muscular glycogen storage disease

P. Laure, Philippe Haouzi, R. Gauthier, J. P. Gille, M. Vidailhet

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Background. - The diagnosis of muscular glycogen storage disease is usually difficult to demonstrate as symptoms normally consist of muscular cramps and exercise intolerance. Informations obtained from the study of the pulmonary, gas exchange during exercise in a young patient with a glycogen storage disease are reported. Case report. - The ventilatory and gas exchange responses to a cyclo-ergometer exercise were studied in a 17-year-old girl during a ramp-like test (5 W/min). The temporal profile of CO2 production (V̇C02) response was clearly abnormal.' V̇CO2 was always lower than oxygen consumption throughout the test, reflecting the lack of lactate buffering by the bicarbonates due to the absence of lactate production. The respiratory ratio was still around 0.75 at the peak of the test. In contrast, responses were perfectly normal in the other members of the family, allowing rejection of the diagnosis of glycogen storage disease without any blood sampling. Conclusion. - This case illustrates the benefit of studying pulmonary gas exchange during exercise for a non-invasive diagnosis of muscular glycogen storage disease and detection of the disease in the other members of family.

Original languageFrench
Pages (from-to)50-53
Number of pages4
JournalArchives de Pediatrie
Volume6
Issue number1
DOIs
StatePublished - Jan 1 1999

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Glycogen Storage Disease
Pulmonary Gas Exchange
Exercise
Lactic Acid
Muscle Cramp
Architectural Accessibility
Bicarbonates
Oxygen Consumption
Gases

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

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title = "Apport de l'etude des echanges gazeux respiratoires au cours de l'exercice dans le diagnostic d'une glycogenose musculaire",
abstract = "Background. - The diagnosis of muscular glycogen storage disease is usually difficult to demonstrate as symptoms normally consist of muscular cramps and exercise intolerance. Informations obtained from the study of the pulmonary, gas exchange during exercise in a young patient with a glycogen storage disease are reported. Case report. - The ventilatory and gas exchange responses to a cyclo-ergometer exercise were studied in a 17-year-old girl during a ramp-like test (5 W/min). The temporal profile of CO2 production (V̇C02) response was clearly abnormal.' V̇CO2 was always lower than oxygen consumption throughout the test, reflecting the lack of lactate buffering by the bicarbonates due to the absence of lactate production. The respiratory ratio was still around 0.75 at the peak of the test. In contrast, responses were perfectly normal in the other members of the family, allowing rejection of the diagnosis of glycogen storage disease without any blood sampling. Conclusion. - This case illustrates the benefit of studying pulmonary gas exchange during exercise for a non-invasive diagnosis of muscular glycogen storage disease and detection of the disease in the other members of family.",
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Apport de l'etude des echanges gazeux respiratoires au cours de l'exercice dans le diagnostic d'une glycogenose musculaire. / Laure, P.; Haouzi, Philippe; Gauthier, R.; Gille, J. P.; Vidailhet, M.

In: Archives de Pediatrie, Vol. 6, No. 1, 01.01.1999, p. 50-53.

Research output: Contribution to journalArticle

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N2 - Background. - The diagnosis of muscular glycogen storage disease is usually difficult to demonstrate as symptoms normally consist of muscular cramps and exercise intolerance. Informations obtained from the study of the pulmonary, gas exchange during exercise in a young patient with a glycogen storage disease are reported. Case report. - The ventilatory and gas exchange responses to a cyclo-ergometer exercise were studied in a 17-year-old girl during a ramp-like test (5 W/min). The temporal profile of CO2 production (V̇C02) response was clearly abnormal.' V̇CO2 was always lower than oxygen consumption throughout the test, reflecting the lack of lactate buffering by the bicarbonates due to the absence of lactate production. The respiratory ratio was still around 0.75 at the peak of the test. In contrast, responses were perfectly normal in the other members of the family, allowing rejection of the diagnosis of glycogen storage disease without any blood sampling. Conclusion. - This case illustrates the benefit of studying pulmonary gas exchange during exercise for a non-invasive diagnosis of muscular glycogen storage disease and detection of the disease in the other members of family.

AB - Background. - The diagnosis of muscular glycogen storage disease is usually difficult to demonstrate as symptoms normally consist of muscular cramps and exercise intolerance. Informations obtained from the study of the pulmonary, gas exchange during exercise in a young patient with a glycogen storage disease are reported. Case report. - The ventilatory and gas exchange responses to a cyclo-ergometer exercise were studied in a 17-year-old girl during a ramp-like test (5 W/min). The temporal profile of CO2 production (V̇C02) response was clearly abnormal.' V̇CO2 was always lower than oxygen consumption throughout the test, reflecting the lack of lactate buffering by the bicarbonates due to the absence of lactate production. The respiratory ratio was still around 0.75 at the peak of the test. In contrast, responses were perfectly normal in the other members of the family, allowing rejection of the diagnosis of glycogen storage disease without any blood sampling. Conclusion. - This case illustrates the benefit of studying pulmonary gas exchange during exercise for a non-invasive diagnosis of muscular glycogen storage disease and detection of the disease in the other members of family.

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