Metabolic Disorders

Pediatrics

Metabolic Disorders

Exam Yield

Probability of getting 1 Question from this chapter 109%

That is 4 marks for remembering bullet points, points you would have already covered in Biochemistry.

Question Pattern

This chapter is based on remembering 2 things.

  • Which deficiency causes, which syndrome.?
  • And which syndrome has which features.?

Just remember this one-to-one relationship for the important disorders mentioned here, and you can easily score.

What’s more, this will already have been covered in Biochemistry too, in respective metabolism chapters.

Recent Questions

Questions on this chapter from recent NEET and AIIMS examinations have been about
  • Ochronosis
  • Hartnup disease
  • Cori disease
  • Mucopolysaccharidoses
  • Maple syrup urine disease
  • Pellagra-like symptoms are seen in the deficiency of
  • Phenylketonuria
  • HHH syndrome
  • Niemann–Pick disease
  • Hereditary fructose intolerance
  • Hurler’s disease
  • Hereditary tyrosinemia 2
  • Urinary findings in AA disorders
  • Disorders of Urea Cycle

Suggested Revision

  • Homocystinuria
  • Examples of Sphingolipidoses
  • Sweaty feet odour
  • Alkaptonuria
  • Types of tyrosinemia with deficient enzymes
  • Tomcat urine
  • Types of porphyria
  • Organic aciduria

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