A child presents with bone pain and hepatosplenomegaly, indicative of Gaucher's disease. A trephine biopsy and aspirate show the following finding. Which of the following is the most likely enzyme deficient in this condition?
AHexosaminidase
BGlucocerebrosidase
CSphingomyelinase
DAlpha 1,4-glucosidase
Which one of the following diseases is classified as an autosomal dominant disorder?
AHemochromatosis
BPhenylketonuria
CMaturity onset diabetes of the young
DGlucose-6 phosphate dehydrogenase deficiency
A patient presents with an X-ray showing cardiomegaly, along with symptoms of hypotonia, macroglossia, hepatomegaly, and floppy baby syndrome. The X ray of the infant is shown below. What is the most likely diagnosis?
APompe's disease
BEbstein anomaly
CTransposition of great arteries
DVon Gierke's disease
ECongenital hypothyroidism
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