Inborn Errors of Metabolism · NEET PG Preparation Biochemistry
A 3-year-old child presents with coarse facial features, skeletal abnormalities (dysostosis multiplex), cloudy corneas, and restricted joint mobility…
Practice question from Inborn Errors of Metabolism (NEET PG Preparation Biochemistry), with the correct answer and a step-by-step solution.
medium · MCQ · Q-BD2A31
A 3-year-old child presents with coarse facial features, skeletal abnormalities (dysostosis multiplex), cloudy corneas, and restricted joint mobility. Laboratory evaluation of cultured fibroblasts shows deficient activity of alpha-L-iduronidase. Which of the following accumulated substances is primarily responsible for the clinical findings?
- A.Glycogen
- B.Sphingomyelin
- C.Dermatan sulfate and Heparan sulfateCorrect answer
- D.Keratan sulfate and GM2 ganglioside
Solution
Hurler syndrome (Mucopolysaccharidosis type I) is caused by a deficiency of alpha-L-iduronidase, leading to the lysosomal accumulation of dermatan sulfate and heparan sulfate. This results in gargoylism, corneal clouding, and mental retardation.
More from Inborn Errors of Metabolism
- A 6-month-old infant is brought to the pediatric clinic with a history of recurrent vomiting, lethargy, and seizures after the introduction…
- A 5-day-old neonate presents with poor feeding, lethargy, vomiting, and a sweet, maple syrup-like odor to the urine. Laboratory tests show…
- An 8-year-old boy is evaluated for joint pain, particularly in the lower back and large joints. Physical examination reveals a bluish-black…
- A 9-month-old infant is brought to the clinic for delayed developmental milestones and hypotonia. Examination reveals a 'cherry-red spot' o…
Practise more Biochemistry
Sign up free for adaptive practice on this chapter, with instant feedback and hints on every question.
Start practising freeFree to start · No credit card needed