Paeds SAQs · genetics-dysmorphology-and-metabolism
Dietary, cofactor and emergency management of metabolic disease
Short-answer question on the four pillars of long-term metabolic therapy, the sick-day regimen, and the cofactor-responsive disorders.
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racp_basicracp_advancedmrcpch_theory
Prompt
A 3-year-old girl with methylmalonic acidaemia, normally well controlled on a low-precursor diet, L-carnitine and a cobalamin trial that showed partial responsiveness, is brought to the emergency department after 24 hours of vomiting and fever. She is lethargic but rousable. Finger-prick glucose is 3.2 mmol/L; the family have not been able to get her to keep down the sick-day drink.
**(a)** Outline the four pillars of long-term management of inherited metabolic disease, giving one example agent for each. *(4 marks)*
**(b)** Describe your immediate in-hospital management of this presentation, including the intravenous regimen and the specific glucose target. *(8 marks)*
**(c)** List four cofactor-responsive inborn errors, each paired with its correct cofactor and a typical dose. *(4 marks)*
**(d)** What are the two principal families of complication of long-term metabolic dietary therapy, and how are they monitored and prevented? *(4 marks)*
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