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1 year old brought to doctor by parents because of severe hypotonia. Patients mother states he had difficulty feedin gbecause of progressive dyspnea and fatigue. Physical exam shows a liver edge about 5 cm below the right costal margin, rales are heard on auscultation of both lower lung fields. A CXR shows cardiomegaly. Fasting plasma glucose levels are within normal range. 1. What is the likely pathology and what suggests it? 2. What is deficient in this patient?

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The General Principles section of the USMLE covers these topics:
Biochemistry
Genetics
Microbiology
Pathology
Pharmacology


1. 1 year old brought to doctor by parents because of severe hypotonia. Patients mother states he had difficulty feedin gbecause of progressive dyspnea and fatigue. Physical exam shows a liver edge about 5 cm below the right costal margin, rales are heard on auscultation of both lower lung fields. A CXR shows cardiomegaly. Fasting plasma glucose levels are within normal range. 1. What is the likely pathology and what suggests it? 2. What is deficient in this patient?





 
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