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​Resources​

Know Your Disease

  • Organic Acidurias 

  • Biotinid​ase

  • Methyl​malonic aciduria

  • Urea cycle disorders

  • Hyperphenylalalinemias (HPA)

  • Maple syrup​ urine disease 




Tests available for IMDs

  • CSF Amino Acid​

  • Plasma Amino Acid

  • Plasma ​​Branched Chain Amino Acids for MSUDs

  • Urine Amino Acid​

  • Urine Organic Acid​

  • Urine Succinylacetone​​​​

​

Interpretive​ Services

  • Laboratory helpline for test inquiry: Between 9:00 am-5:00 pm | +9221 3486 1924 | 24 hours helpline +9221 3486 1620
  • Clinical Laboratory Consultation: Between 9:00 am-5:00 pm | +9221 3486 1931/1918 (on weekdays only)
  • Outsourcing of Metabolic Lab Test (for patients registered at AKUH)
    • Request form​ and Lab process
    • Contact Person: farhana.basharat@aku.edu, +92 21 3486 1468
  • Metabolic Tele-clinics:
    • For consults:  (+9221) 111 911 911 | 8:00 am-12:00 pm | 3 days a week
    • For appointments: (+9221) 3486 1330/1356/1001| 8:30 am-5:30 pm | Mon-Fri

  • Metabolic Helpline: Speak with a qualified and experienced Metabolic Clinical Nurse Coordinator by calling +92335 3527064 | 8:00 am-5:00 pm|Mon-Fri​​

  • Sponsor a Child with an IMD!
    read more…​​​

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