autosomal_recessive_conditions_flashcards

Question 1

What type of conditions are often thought to be autosomal recessive?

Answer 1

‘Metabolic’ conditions.

Question 2

What type of conditions are often thought to be autosomal dominant?

Answer 2

‘Structural’ conditions.

Question 3

What are some exceptions to autosomal recessive conditions being ‘metabolic’?

Answer 3

Some ‘metabolic’ conditions like Hunter’s and G6PD are X-linked recessive, while others like hyperlipidemia type II and hypokalemic periodic paralysis are autosomal dominant.

Question 4

What are some exceptions to autosomal dominant conditions being ‘structural’?

Answer 4

Some ‘structural’ conditions like ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive.

Question 5

What are some autosomal recessive conditions?

Answer 5

Albinism, Ataxic telangiectasia, Congenital adrenal hyperplasia, Cystic fibrosis, Cystinuria, Familial Mediterranean Fever, Fanconi anaemia, Friedreich’s ataxia, Gilbert’s syndrome, Glycogen storage disease, Haemochromatosis, Homocystinuria, Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick, Mucopolysaccharidoses: Hurler’s, PKU, Sickle cell anaemia, Thalassaemias, Wilson’s disease.

Question 6

Is Gilbert’s syndrome autosomal recessive or dominant?

Answer 6

It is still a matter of debate, but many textbooks list Gilbert’s as autosomal dominant.