Metabolic disorders

Question 1

Guthrie test key diseases

Answer 1

Phenylketonuria
cystic fibrosis
congenital hypothyroidism
Sickle cell diseases
Medium chain Acyl-CoA dehydrogenase deficiency

Question 2

Phenylketonuria outcomes

Answer 2

Phenylalanine hydroxylase deficiency

Question 3

Phenylketonuria test

Answer 3

Phenylalanine levels

Question 4

Congenital hypothyroidism outcomes

Answer 4

Thyroid gland agenesis/dysgenesis

Question 5

Congenital hypothyroidism test

Answer 5

TSH

Question 6

Cystic fibrosis outcomes

Answer 6

Mutation in CFTR
Viscous secretions → duct blockage

Question 7

Cystic fibrosis most common mutation

Answer 7

F508 deletion

Question 8

Cystic fibrosis screening

Answer 8

immune reactive trypsin
If positive, → DNA mutation detection

Question 9

Medium chain acyl-CoA dehydrogenase deficiency outcomes

Answer 9

Fatty acid oxidation disorder

Question 10

Medium chain acyl-CoA dehydrogenase deficiency screening

Answer 10

Acylcarnitine levels by tandem Mass spectrometry

Question 11

Summarise key statistical terms around screening tests

Answer 11

Question 12

Summarise key metabolic conditions caused by the accumulation of toxins

Answer 12

Question 13

Summarise key metabolic conditions characterised by reduced energy stores

Answer 13

Question 14

Summarise key metabolic conditions caused by large molecule synthesis

Answer 14

Question 15

Summarise key metabolic conditions caused by large molecule metabolism issues

Answer 15

Question 16

Summarise key mitochondrial metabolic conditions

Answer 16