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(Solved): A 14-year-old boy with Morquio syndrome B was diagnosed by detection of decreased galactosidase ...
A 14-year-old boy with Morquio syndrome B was diagnosed by detection of decreased ? galactosidase activity in blood leucocytes. He had short stature (dwarfism), difficulty in walking, and multiple skeletal abnormalities such as pectus carinatum and kyphosis. He had normal intelligence, and no neurologic or linguistic impairments. Biopsy of skeletal muscle followed by electron microscopy revealed moderately dense granular deposits in membrane-delimited organelles. The membrane-delimited organelles most likely affected in the patient above are: Answers A - E A Lysosomes B Nuclei Mitochondria D Golgi Apparatus E Peroxisomes
Use the following clinical case to answer next two questions. A patient was admitted to the hospital with increased breathlessness. Arterial blood gas measurements revealed pO2? of 6kPa (normal =10.5?13.5kPa),pCO2? of 8.4kPa(4.6?6.0kPa ), a blood pH of 7.35 (normal= 7.37?7.44 ), and bicarbonate concentration of 35 mmol/L (normal=23-30 mmol/L). Based on the blood test values indicated above, what is the most likely diagnosis for this patient? Answers A - E A Chronic obstructive pulmonary disease B Diabetic ketoacidosis C Kidney failure D Hyperventilation E Lactic acid accumulation in muscles