471695
Description
Mind Map by v.djabatey, updated more than 1 year ago
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Created by v.djabatey
over 10 years ago
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Inborn errors of metabolism
- presentation
- +ve family hx
- prev unexplained
deaths in fam
- after birth
- on newborn screening
- e.g. PKU
- e.g. PKU
- family
screening
- e.g. familial
hypercholesterolaemia
- e.g. familial
hypercholesterolaemia
- after short period of
seeming normality w/
- severe
neonatal
illness
- poor feeding
- vomiting
- encephalopathy
- acidosis
- coma
- death
- e.g. organic acid and urea cycle disorders
- poor feeding
- severe
illness in
infant or
older child
- prominent
hypoglycaemia
- acute
life-threatening
episode
(ALTE)
- near
miss cot
death
- presenting
similarly to features
of severe neonatal
illness mentioned
- e.g. fat oxidation
defect- medium chain
acyl-CoA
dehydrogenase
deficiency (MCADD)
- prominent
hypoglycaemia
- severe
neonatal
illness
- subacutely after period
of normal development
- starts regressing
- organomegaly
- coarse facies
- e.g.
mucopolysaccharide
disease
- hepatomegaly and/or
splenomegaly alone
- w/ or w/o biochemical upset
- e.g.hypoglycaemia-
in glycogen storage
disease
- e.g.hypoglycaemia-
in glycogen storage
disease
- w/ or w/o biochemical upset
- starts regressing
- dysmorphic syndrome
- on newborn screening
- +ve family hx
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