Pregnancy & Newborn Screening Developments Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)
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Transcript of Pregnancy & Newborn Screening Developments Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)
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Pregnancy & Newborn Screening Developments
Medium Chain Acyl CoA Dehydrogenase Deficiency
(MCADD)
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What is MCADD
• Medium Chain Acyl-CoA Dehydrogenase Deficiency
• Caused by the lack of an enzyme (‘catalyst’) required to convert stored fat to energy
• Affects 1 in 10,000 babies born in the UK
• In Scotland screening should identify 5 – 10 cases a year
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What is MCADD
• Fatty acids are an important energy reserve (fuel) during periods of poor calorie intake, fasting or during infections
• Patients with MCADD have a deficiency of an enzyme necessary for the breakdown of medium chain fatty acids
• Medium chain fats accumulate and make toxic substances which cause serious symptoms.
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Why screen for MCADD
• Early identification results in early treatment reducing risk of acute life threatening episodes
• Early detection of MCADD allows crisis/sudden death to be avoided
• Adherence to dietary management - normal life can be expected
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Complications of MCADD
• Because fat fuels cannot be used, these patients quickly use up glucose and may develop hypoglycaemia
• High levels of partially broken down fatty acids and low blood glucose concentrations causes the patient to become drowsy, comatosed and eventually stop breathing
• Short term effects: seizures, cardiac arrest, coma, sudden death
• Long term effects: developmental and behavioural disabilities, failure to thrive, cerebral palsy and attention deficit disorder
• 1 in 4 infants die at 1st presentation before diagnosis made
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Diagnosing MCADD
• Tandem Mass Spectrometry (TMS)
• Acyl carntine (C8) raised
• Diagnosis confirmed by repeat blood test at follow up visit
• DNA test for common mutations (Dundee laboratory)
• Carriers are not intentionally identified
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How is MCADD managed?
• Scottish National Screening Laboratory notify Regional Metabolic Team (RMT) in Glasgow or Edinburgh
• RMT contacts family by telephone to give screening result and follow up plan
• RMT informs MCADD Designated Team (MDT)*• Provide MDT and/or GP, HV or midwife with MCADD resource pack• Arrange face-to-face consultation by member of MCADD
Designated Team and/or GP, HV or midwife as per local protocol• Arrange follow up visit with MCADD Designated Team within 24
hours or as soon as practically possible
*MDT may be same as the RMT for some NHS Boards
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How is MCADD managed?
• Fasting should be avoided• Parents need to know how to manage a ‘metabolic crisis’• Regular ‘safe’ time between feeds/meals• Treat if vomiting/drowsy with glucose polymer feeds• Emergency – IV dextrose• Refer urgently to clinician who understands condition – metabolic
specialist• On going care shared between RMT and MDT
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How is MCADD managed?
MCADD Resource Pack:
• MCADD is suspected leaflet• Contact details for MCADD Designated Team and the Regional
Team• A & E information • GP information
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Genetic facts about MCADD
• A child that has MCADD has inherited two altered genes, one from each parent, both of whom are carriers
• It is thought that between 1 in 40 and 1 in 80 healthy people are carriers and do not have any symptoms
• MCADD gene found on chromosome 1
• Most common mutation,985A>G found in 85-90% of those with symptoms, but over 25 other variants found
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Genetic facts about MCADD
• For each pregnancy where both parents are carriers, there is:
– 25% chance that the child will be born with MCADD
– 50% chance the child will be carrier of the MCADD gene
– 25% chance that the child will not be a carrier nor have the disease
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Additional Management of MCADD
• Babies must complete a full immunisation programme
• Influenza vaccine is recommended annually
• Some children may require a supplement of a vitamin-like substance called carnitine to prevent carnitine deficiency
• Anaesthetic procedures require an infusion of dextrose before, during and following procedure
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Family Issues
• Families will require genetic counselling
• Older siblings born before newborn screening started will need to be tested – arranged by metabolic clinician
• Next child: early testing as well as routine testing