INBORN ERRORS OF METABOLISM EXAM
QUESTIONS AND ANSWERS LATEST UPDATE 2024
What is the mutation in alkaptonuria?
homogenization oxidase
What group of disorders describe a single gene defect causes a clinically
significant block in a metabolic pathway
Inborn errors of metabolism
Most metabolic disorders are inherited in what type of pattern
Autosomal recessive pattern
How does alkaptonuria present?
black urine + arthritic joint pain
What are the classes of metabolic disorders?
1.Carbohydrate metabolism
2.Amino acid metabolism
3.Lipid metabolism
4.Organic acid metabolism
5.Urea Cycle disorders
,6.Energy production defects
7.Transport defects
Gene defect in classical galactosemia?
GAL-1-P uridylyl transferase
new borne presentation of classical galactosemia?
•Failure to thrive
•Hepatic insufficiency
•Cataracts
•Developmental delay
What enzyme is deficient in HFI?
aldolase B
What is Von Gierke's disease?
Deficiency in glucose-6-phosphatase
how does von gierke's diease present
, hepatomegaly and hypoglycemia
What is deficient in classical PKU?
PAH, or BH4 deficiency
How is PKU treated?
low phenylalanine diet
What does Guthrie test test for?
PKU
What is MSUD?
cannot metabolize branched chain ketoacids from BCAAs
What is MCAD?
Medium-chain acyl-CoA dehydrogenase deficiency
How does MCAD present?
QUESTIONS AND ANSWERS LATEST UPDATE 2024
What is the mutation in alkaptonuria?
homogenization oxidase
What group of disorders describe a single gene defect causes a clinically
significant block in a metabolic pathway
Inborn errors of metabolism
Most metabolic disorders are inherited in what type of pattern
Autosomal recessive pattern
How does alkaptonuria present?
black urine + arthritic joint pain
What are the classes of metabolic disorders?
1.Carbohydrate metabolism
2.Amino acid metabolism
3.Lipid metabolism
4.Organic acid metabolism
5.Urea Cycle disorders
,6.Energy production defects
7.Transport defects
Gene defect in classical galactosemia?
GAL-1-P uridylyl transferase
new borne presentation of classical galactosemia?
•Failure to thrive
•Hepatic insufficiency
•Cataracts
•Developmental delay
What enzyme is deficient in HFI?
aldolase B
What is Von Gierke's disease?
Deficiency in glucose-6-phosphatase
how does von gierke's diease present
, hepatomegaly and hypoglycemia
What is deficient in classical PKU?
PAH, or BH4 deficiency
How is PKU treated?
low phenylalanine diet
What does Guthrie test test for?
PKU
What is MSUD?
cannot metabolize branched chain ketoacids from BCAAs
What is MCAD?
Medium-chain acyl-CoA dehydrogenase deficiency
How does MCAD present?
