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Not all children with high phenylalanine have PKU ! (case study).

Not all children with high phenylalanine have PKU ! (case study).

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Not all children with high phenylalanine have PKU ! (case study).

  1. 1. Case Summary Rania; Term Female , was born at 4th June 2021 by Cesarean section • Mother: G5 P4 A0. • Mother: No complications during pregnancy, with good antenatal care. • No complications during delivery. • At birth: Weight:3kg . Length: 48 cm. OFC: 34 cm. • Newborn screening for genetic disease diagnosed with Phenylketonuria.
  2. 2. • After one month: she was in good general condition, active, with exclusive breastfeeding ( special formula was not available ), good nutritional assessment according to age, Length, weight and good cranial circumference. No respiratory or neurological changes. • phenylalanine in the blood was not so high 12 mg/dL ? Therefore we decided to think again about diagnosis. • Most important step is to send to genetic test.
  3. 3. Farther History ….. • Nothings were significant in history apart from Family History • Father 39 years , Mother 32 years old (cousins) no medical history, allergy or chronic diseases. • Family with a history of four deaths, as follows:
  4. 4. *1st Baby: Nagham *Born: 2008 *Died: 2011 *Diagnosis: PKU *2nd Baby: Nagham *Born: 2011 Died:2017 *Diagnosis: PKU *3rd Baby: Noor *Born: 2014 *Died:5mon th *Diagnosis: Recurrent Respiratory tract infections *3rd Baby: Iman *Born: 2014 *Died:5mon th *Diagnosis: Recurrent Respiratory tract infections
  5. 5. On further enquiry • By close observation and contentious assessment of patient regarding history, physical examination and farther investigations (Pending genetic test ….) • History:  after second month; recurrent attacks of cough and shortness of breath. frequent passage of bulky, offensive stool and later with failure of gaining weight This is GIT & Respiratory problem ??
  6. 6. Tetrahydrobiopterin (BH4) deficiency Cystic fibrosis (CF)
  7. 7. • The baby frequently admitted to hospital because of recurrent RTI, recurrent Gastroenteritis & dehydration. • Frequently admitted to PICU with two times intubation and mechanical ventilation.
  8. 8. Tetrahydrobiopterin (BH4) deficiency Cystic fibrosis (CF) Diagnosis…..
  9. 9. Treatment: • (BH4) deficiency: Kuvan (sapropterin dihydrochloride) & PKU Formula. o For Cystic fibrosis (CF): o pancreatic enzyme replacement therapy 3000 lipase units prior to each feeding. o extra salt (1/8 teaspoon of table salt) o We also administer fat-soluble vitamins A, D E and K.
  10. 10. Outcome and follow-up: • The patient's blood phenylalanine levels gradually normalized after treatment BUT • She did not gain weight and Diarrhea become more sever with sever lower respiratory tract infection & and frequent intubation in PICU • Unfortunately the baby Rania passed away on 29 January 2021 …
  11. 11. Lessons • (BH4) deficiency should be considered in a patient diagnosed with PKU who presents with hyperphenylalaninemia. • We recommend the routine use of Genetic test for any patient with PKU who developed progressive neurological deterioration despite early dietary management.
  12. 12. Some theory • Phenylketonuria (PKU), which was first reported by in 1934, is one of the most common inborn errors of metabolism with an estimated prevalence of 1 in 10,000 in the European population . • PKU is caused by the deficiency of phenylalanine hydroxylase, which catalyzes the hydroxylation of phenylalanine to generate tyrosine. • As a result, phenylalanine will accumulate to toxic levels causing irreversible intellectual disability (ID).
  13. 13. Some theory • Tetrahydrobiopterin (BH4) is an essential cofactor for the hydroxylation of aromatic amino acids phenylalanine, tyrosine, and tryptophan. • Therefore, tetrahydrobiopterin deficiency results in hyperphenylalaninemia as well as dopamine and serotonin depletion in the central nervous system. • The enzyme 6-pyruvoyltetrahydropterin synthase catalyzes the second step of de novo synthesis of tetrahydrobiopterin, and its deficiency is the most frequent cause of tetrahydrobiopterin metabolism disorders. • (BH4) that was first identified in the 1960s.
  14. 14. • Disorders of BH4 metabolism account for only 1% to 2% of patients with hyperphenylalaninemia in Europeans, whereas they are more common in some other ethnic groups. • For example, BH4 deficiency accounts for more than 10% of hyperphenylalaninemia patients in some countries in East Asia, reaching up to one- third of cases in some reports. • In a cross sectional study from Iran, 76 of 617 (12%) with hyperphenylalaninemia have BH4 deficiencies. Some theory
  15. 15. Some theory
  16. 16. THANKS FOR YOUR ATTENTION “I am no longer accepting the things I cannot change. I am changing the things I cannot accept.” Angela Davis

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