|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.
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.
- Hartnup disease
- Cori disease
- Maple syrup urine disease
- Pellagra-like symptoms are seen in the deficiency of
- HHH syndrome
- Niemann–Pick disease
- Hereditary fructose intolerance
- Hurler’s disease
- Hereditary tyrosinemia 2
- Urinary findings in AA disorders
- Disorders of Urea Cycle
- Examples of Sphingolipidoses
- Sweaty feet odour
- Types of tyrosinemia with deficient enzymes
- Tomcat urine
- Types of porphyria
- Organic aciduria