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

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  • 1. Phenylketonuria and other inherited metabolic disorders<br />Kathleen Williams<br />Diabetes and Obesity Specialist Dietitian<br />South Devon Healthcare<br />
  • 2. Phenylketonuria – an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase<br />Leads to increased blood phenylalanine<br />Hyperphenylalaninaemia leads to neurotoxicity<br />1:4 incidence<br />Prevalence 1/10,000<br />Guthrie Test <br />Phenylketonuria<br />
  • 3. Phenylketonuria (PKU)<br />
  • 4. Classical – levels &gt;1200 mcmol/l<br />Moderate – levels &gt;600 – 1200 mcmol/l<br />Mild - &gt;400 mcmol/l<br />Normal Phe level – 120 -600mcmol/l<br />Untreated PKU – mental retardation, hyperactive behaviour with autistic features, seizures<br />
  • 5. Restrict dietary Phe<br />Allocate an allowance of Phe containing foods<br />Provide a Phe free amino acid substitute<br />Maintain energy intake with low protein foods<br />Ensure mineral and vitamin intake adequate<br />Dietary Treatment of PKU<br />
  • 6. Fats – butter, margarine, oils<br />Sugar – jam, honey ,boiled sweets, cornflour<br />Drinks – Lucozade, lemonade, squash, tonic water, soda water, tea, coffee<br />Herbs and spices<br />Free foods<br />
  • 7. Fruits – most except bananas<br />Vegetables – most except for potatoes, sweet potato, peas, beans, sweetcorn, <br />May need to count if eat a lot and need to be strict<br />Low/negligible Phenylalanine content<br />
  • 8. 1 Phe exchange = 50mg Phe or 1g protein<br />Cows milk 30ml<br />Chips 25g<br />Baked beans 20g<br />Cornflakes 10g<br />Rice – cooked 45g<br />Banana 100g<br />Phenylalanine Exchanges<br />
  • 9. Meat, fish, cheese, eggs, nuts<br />Milk and yogurt<br />Ordinary cereals, bread and flour (unless counted as an exchange)<br />Foods to avoid<br />
  • 10. See as a life long diet<br />Phe levels can affect concentration and behaviour<br />Effective contraception<br />Pregnancy<br />Difficulties in maintaining diet<br />??Follow up in clinic<br />PKU in treated adults<br />
  • 11. Evidence that implementing Phe restriction can help with skin conditions, behaviour and seizures<br />Difficult to implement and monitor<br />Realistic and achievable<br />Effective contraception<br />Julie and Sandi<br />PKU in untreated adults<br />
  • 12. Essential to achieve and maintain Phe levels<br /> 60 – 250mgmol/l pre-conception and throughout pregnancy<br />Levels above 900mgmol/l at conception – high risk of malformation<br />Monitor 2x/week<br />Maternal PKU<br />
  • 13. Treated but often had levels above target<br />Worked as ECG technician<br />Continued with some diet restriction but levels usually 700 -1000 from 1989-1996<br />Continued with a-a substitute <br />1996 – wanted to become pregnant. Tightened up diet but difficulty maintaining weight. <br />Kim 22/01/73<br />
  • 14. Maxamum a-a substitute<br />Duocal<br />Maxijul<br />Low protein products<br />Phe exchanges<br />Weight 46.5kg BMI 19<br />Regime<br />
  • 15. Regular visits/phone calls<br />Adjust Phe exchanges up or down according to levels<br />Increase calories from Duocal or Maxijul to ensure weight gain<br />Monthly blood tests for a-a profile, tyrosine levels, FBC, ferritin, selenium, zinc, CRP<br />Letter stating needs IV glucose if has prolonged vomiting<br />Pregnancies 1997 and 2001 <br />
  • 16. Galactosaemia<br />Maple Syrup Urine Disease<br />Organic acidaemias eg proprionoc acideamia and methyl malonic acidaemia<br />Other inherited metabolic disorders<br />
  • 17. Galactose – monosaccharide found in milk<br />Exclude milk and dairy products, lactose fillers eg in medications<br />Reccommended diet for life<br />Adult females – late puberty. Most are infertile or reduced fertility<br />Osteoporosis<br />Incidence 1/45,000<br />Galactosaemia<br />
  • 18. Branched chain a-a (leucine, isoleucine and valine)<br />Ketonuria, poor feeding, encephalopathy within 4-5 days birth<br />Life long diet<br />Adolescents and adults at increased risk of ADHD, depression and anxiety<br />Pregnancy – frequent monitoring of plasma a-a and growth<br />Incidence 1/180,000<br />Maple Syrup Urine Disease<br />
  • 19. Severity of disorder depends on enzyme activity.<br />Presents with severe metabolic acidosis, hypotonia, dehydration in early infancy<br />Poor prognosis if severe with little or no enzyme activity<br />Organic acidaemias<br />

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