inborn-errors-of-metabolism63
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THE USUAL COURSE OF NEONATAL HYPERAMMONEMIA-1
PATIENT DIAGNOSIS TREATMENT
home
Mother: “sleeps too long”
peripheral
hospital
Hyperammonemia
(May) Start Pharmacological
Treatment
3 rd
level
hospital
Metabolic defect
Starts (continues) Pharmacological
Treatment
Metabolism expert
Neonatologist
RESPONSE
NO RESPONSE
Biochemistry Lab
Nephrologist
RE-FEEDING
DIALYSIS
OUTCOME ANALYSIS