MISC - Inherited metabolic disorders Flashcards
What is tested for during the newborn blood test screen?
Congenital hypothyroidism
Cystic fibrosis
Sickle cell disease
6 inborn errors in metabolism
What 6 inforn errors in metabolism are assessed for at birth?
PKU
MCADD
Glutaric aciduria T1
Isovaleric acidaemia
Homocystinuria
Maple syrup urine disease
How does PKU present
Phenylketonuria
phenylalanine hydroxylase deficiency
- blond hair
- blue eyes
- microcephaly
-** musty **body odour
How does MCADD present
Medium-chain acyl-CoA dehydrogenase deficiency
Hypoglycaemia and hypoketonuria
How does glutaric aciduria T1 present?
Hypotonia, subdural haemorrhage
How does isovaleric acidaemia present?
hypoammonaemia
cheesy / sweaty smell
How does maple syrup disease present?
Sweet smelling urine
How does homocystinuria present?
Lens dislocation (ectopia lentis) and/or progressive myopia
skeletal issues
