• A rare autosomal recessive inherited metabolic disease where the body cannot metabolise fat properly
• With regular intake of food, individuals can lead a normal healthy life but prolonged fasting or illness with vomiting can lead to encephalopathy, coma or sudden death
• Affects 1:10,000 babies in UK. 1:80 healthy people are carriers 
• Bloodspot screening at day 5 includes MCADD (see Bloodspot screening guideline)
• Newborn babies with MCADD are especially vulnerable in first few days of life before breast milk supply and regular feeding pattern established
• Babies with a family history of MCADD require a special feeding regimen and observation from birth

• Often non-specific
  • hypothermia
  • jitteriness
  • irritability
  • drowsiness
  • reluctance to feed
  • lethargy
  • rapid breathing
  • seizures
  • coma
  • sudden death
• Hypoglycaemia occurs late

• When mother admitted in labour, inform neonatal team 
• Test baby aged 24–48 hr
  • bloodspot acylcarnitines
  • urine organic acids
  • DNA mutation analysis (in most cases, genotype will be known for the index case)
• Discuss testing with metabolic laboratory at Birmingham Children’s Hospital and mark request ‘family history of MCADD’
• Continue special feeding regimen until results available

• High index of suspicion antenatally
• Refer those with family history of MCADD for genetic counselling antenatally
• Advise parents baby will require specialist feeding regimen from birth and rapid testing at aged 24–48 hr
• Institute specialist feeding regimen from birth and ensure regular milk intake 
• Complete bloodspot screening as normal on day 5
• If baby not meeting target volumes start nasogastric tube feeds 
• If enteral feeds not tolerated, commence IV fluid – glucose 10%, sodium chloride 0.18%
• Routine monitoring of blood glucose not necessary 
• Bottle fed babies 
• term baby: 4-hrly feeds
• preterm baby: 3-hrly feeds
• fluid intake should be 60 mL/kg/day on day 1, increasing to 150 mL/kg/day by day 7
• Breastfed babies 
  • at particular risk in first 72 hr 
  • should breastfeed for ≥10 min, 8 times/day
  • observe feeding to check baby latched on well and has a slow rhythmic suck (i.e. good technique)
  • give all breastfed babies formula top-ups until good maternal milk supply established
    • day 1: 25 mL/kg
    • day 2: 40 mL/kg
    • day 3: 60 mL/kg
  • if baby not taking adequate oral feeds, start nasogastric tube feeding 

• If baby drowsy or unwell in any way, admit to NNU urgently
  • give 2 mL/kg glucose 10% as IV bolus, then commence infusion of glucose 10% at 100 mL/kg/day
  • change to glucose 10% sodium chloride 0.18% from day 3
  • if no oral intake increase IV infusion to 150 mL/kg/day over 3 days
  • monitor blood glucose and electrolytes, but base treatment on clinical state as hypoglycaemia occurs late
• Seek advice from specialist metabolic centre 

• Assess baby’s feeding before considering discharge 
• Give parents clear instructions to return to hospital if feeding is poor
• If baby feeding well, risk of neonatal decompensation is low after 72 hr. Baby can be safely discharged before this, even if results are not known, provided baby’s feeding is secure

• For specialist advice, consult Birmingham Children’s Hospital metabolic on-call consultant (0121 333 9999)

http://www.bimdg.org.uk/guidelines.asp