Neonatal screening - blood spot test Flashcards
1
Q
Features:
- behavioural difficulties
- fairer hair and eyes than siblings
- eczema
- recurrent vomiting
- seizures
A
Phenylketonuria
2
Q
features: prolonged neonatal jaundice (> 2weeks), macroglossia
long term: cretinism, mental retardation
A
Congenital hypothyroidism
3
Q
Features:
- lethargy
- vomiting
- excessive sweating
- rapid breathing
- seizures
A
MCADD
4
Q
Features:
- sweet smelling urine
- sweating
- poor feeding/ loss of appetite
- weight loss
A
Maple Syrup Urine disease
5
Q
Features;
- distinct odour of ‘sweaty feet’
- poor feeding/ loss of appetite
- weight loss
A
Isovaleric acidaemia
6
Q
Features:
- macrosomia
- hypotonia
- subdural haematoma
A
Glutaric aciduria type 1
7
Q
Features:
- myopia (short - sightedness)
- osteoporosis
- increased risk of stroke and thrombosis
A
Homocystinuria
