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Sp r june 2011phenylketonuria and other inherited metabolic disorders

Sp r june 2011phenylketonuria and other inherited metabolic disorders






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    Sp r june 2011phenylketonuria and other inherited metabolic disorders Sp r june 2011phenylketonuria and other inherited metabolic disorders Presentation Transcript

    • Phenylketonuria and other inherited metabolic disorders
      Kathleen Williams
      Diabetes and Obesity Specialist Dietitian
      South Devon Healthcare
    • Phenylketonuria – an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase
      Leads to increased blood phenylalanine
      Hyperphenylalaninaemia leads to neurotoxicity
      1:4 incidence
      Prevalence 1/10,000
      Guthrie Test
    • Phenylketonuria (PKU)
    • Classical – levels >1200 mcmol/l
      Moderate – levels >600 – 1200 mcmol/l
      Mild - >400 mcmol/l
      Normal Phe level – 120 -600mcmol/l
      Untreated PKU – mental retardation, hyperactive behaviour with autistic features, seizures
    • Restrict dietary Phe
      Allocate an allowance of Phe containing foods
      Provide a Phe free amino acid substitute
      Maintain energy intake with low protein foods
      Ensure mineral and vitamin intake adequate
      Dietary Treatment of PKU
    • Fats – butter, margarine, oils
      Sugar – jam, honey ,boiled sweets, cornflour
      Drinks – Lucozade, lemonade, squash, tonic water, soda water, tea, coffee
      Herbs and spices
      Free foods
    • Fruits – most except bananas
      Vegetables – most except for potatoes, sweet potato, peas, beans, sweetcorn,
      May need to count if eat a lot and need to be strict
      Low/negligible Phenylalanine content
    • 1 Phe exchange = 50mg Phe or 1g protein
      Cows milk 30ml
      Chips 25g
      Baked beans 20g
      Cornflakes 10g
      Rice – cooked 45g
      Banana 100g
      Phenylalanine Exchanges
    • Meat, fish, cheese, eggs, nuts
      Milk and yogurt
      Ordinary cereals, bread and flour (unless counted as an exchange)
      Foods to avoid
    • See as a life long diet
      Phe levels can affect concentration and behaviour
      Effective contraception
      Difficulties in maintaining diet
      ??Follow up in clinic
      PKU in treated adults
    • Evidence that implementing Phe restriction can help with skin conditions, behaviour and seizures
      Difficult to implement and monitor
      Realistic and achievable
      Effective contraception
      Julie and Sandi
      PKU in untreated adults
    • Essential to achieve and maintain Phe levels
      60 – 250mgmol/l pre-conception and throughout pregnancy
      Levels above 900mgmol/l at conception – high risk of malformation
      Monitor 2x/week
      Maternal PKU
    • Treated but often had levels above target
      Worked as ECG technician
      Continued with some diet restriction but levels usually 700 -1000 from 1989-1996
      Continued with a-a substitute
      1996 – wanted to become pregnant. Tightened up diet but difficulty maintaining weight.
      Kim 22/01/73
    • Maxamum a-a substitute
      Low protein products
      Phe exchanges
      Weight 46.5kg BMI 19
    • Regular visits/phone calls
      Adjust Phe exchanges up or down according to levels
      Increase calories from Duocal or Maxijul to ensure weight gain
      Monthly blood tests for a-a profile, tyrosine levels, FBC, ferritin, selenium, zinc, CRP
      Letter stating needs IV glucose if has prolonged vomiting
      Pregnancies 1997 and 2001
    • Galactosaemia
      Maple Syrup Urine Disease
      Organic acidaemias eg proprionoc acideamia and methyl malonic acidaemia
      Other inherited metabolic disorders
    • Galactose – monosaccharide found in milk
      Exclude milk and dairy products, lactose fillers eg in medications
      Reccommended diet for life
      Adult females – late puberty. Most are infertile or reduced fertility
      Incidence 1/45,000
    • Branched chain a-a (leucine, isoleucine and valine)
      Ketonuria, poor feeding, encephalopathy within 4-5 days birth
      Life long diet
      Adolescents and adults at increased risk of ADHD, depression and anxiety
      Pregnancy – frequent monitoring of plasma a-a and growth
      Incidence 1/180,000
      Maple Syrup Urine Disease
    • Severity of disorder depends on enzyme activity.
      Presents with severe metabolic acidosis, hypotonia, dehydration in early infancy
      Poor prognosis if severe with little or no enzyme activity
      Organic acidaemias