A 9-year-old boy presented with a 2-day history of vomiting, ataxia and reduced consciousness. He had vomited intermittently in the two preceding months, without headaches, visual disturbance or early morning symptoms. He had autism spectrum disorder, and restricted eating since aged 2 years, eating only corn-crisps, Rich Tea biscuits and chips (French fries), and drinking Coca-Cola (containing 10% glucose; figure 1). Recently a dietician had prescribed a multivitamin.
Dietary analysis revealed an extremely low protein (0.37 g/kg/day) and low fat (0.77 g/kg/day) diet for over 7 years with a caloric intake of 1200 kCal. Estimated requirements were 1512 kCal,1 0.92 mg/kg/day of protein2 and 1.94 mg/kg of fat (based on 35% of daily calorie intake3).
On examination he was encephalopathic, with hepatomegaly and ascites. His height and weight were on the 0.4th–2nd and 9th centiles, respectively. Laboratory results demonstrated glucose 2.7 mmol/L, mild anaemia, raised urea (10.7 mmol/L) with normal creatinine and raised hepatic transaminases, low albumin and elevated creatinine kinase (peak 7809 IU/L). He remained encephalopathic and was intubated for poor respiratory function. Ammonia and blood pH were normal.
Question 1 What nutritional/metabolic test(s) would be the next best step?
Vitamin B1 (thiamine) levels
Copper and caeruloplasmin levels
Blood spot for acylcarnitine profile
Plasma amino acid profile
Urine organic acids
Question 2 What potentially dangerous feeding issues in paediatric intensive care exist here?
Electrolyte levels and supplementation
Fat composition of feeds
Amino acid composition of feeds
Question 3 Why might this patient have had preserved vitamin E levels?
Vitamin E is added to rancheros
Some vitamin E is obtained from sunlight
French fries are relatively high in vitamin E
Question 4 What metabolic disorders are associated with very low carnitine levels?
Fatty acid oxidation disorders
Mitochondrial disorders (disorders of respiratory chain)
Maple syrup urine disease (MSUD)
Answers can be found on page 01
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