Chapter·BiochemistryGenetic Disorders and Biochemical Pathology

Single Gene DisordersDownloads

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Sample Questions

1

An infant presents with vomiting after feeding. Benedict's test was positive for a non-glucose reducing substance. What is the most likely diagnosis?

AGalactosemia due to GAL-1-P Uridyl Transferase enzyme deficiency

BFructosuria due to Fructokinase deficiency

CHereditary fructose intolerance due to Aldolase B deficiency

DPrimary lactose intolerance

EGlycogen storage disease due to Glucose-6-phosphatase deficiency

2

Inheritance of Huntington's disease is

AAutosomal Dominant

BX-Linked Recessive

CAutosomal Recessive

DX-Linked Dominant

3

An affected male does not have affected children but an affected female always has affected children. Type of inheritance?

AAutosomal recessive

BMitochondrial

CX linked recessive

DX linked dominant

+ 7 more in the PDF

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