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Rare disease treatment - Citrullinemia
Infant from Thailand successfully saved at NTUH
An infant in Thailand was noticed to be lethargic and poor feeding on the
third day after his birth. His blood test indicated hyperammonemia (over
≦50µmol/L) and abnormal increase of Citrullin.
500µmol/L, normal level≦
He has immediately received peritoneal dialysis therapy and
protein-restricted diet; however, he still appeared hyperammonemia.
His parents learned that hemodialysis therapy is the most effective way
to rapidly reduce the blood ammonia level, but also disappointedly
realized the fact that hemodialysis therapy is not available on infants in
their home country. They consequently looked for a hospital overseas
that has full experience in infant hemodialysis therapy. They found out
that NTUH meets all the qualifications and decided to give it a try.
The infant had been placed on endotracheal tube connected to ventilator
machines when he was transported to Taiwan by airplane accompanied
by his parents and a medical team. He immediately received a medical
examination at NTUH. The examination report revealed his high blood
ammonia level (over 500µmol/L), high blood Citrullin level (over
3000µmol/L), liver failure and respiration failure.
The patient’s blood ammonia level has been successfully brought down
to the normal range within 4 hours after hemodialysis therapy.
Subsequently, he received plasma fibrinogen infusion, amino acid
supplement and three more rounds of hemodialysis therapy. His
condition gradually improved and had remained stable when he was
discharged after three weeks of hospital stay. He then safely returned to
Thailand.
This infant weighed only 4 kilograms when he was admitted to NTUH.
The medical team had to be very circumspect and careful while
performing the hemodialysis therapy on his tiny artery. With successful
integration of the professionals from department of pediatrics,
department of medical genetics historical background, department of
surgery and intensive care into the treatment for metabolic birth defects,
genetic diseases and rare disorders, NTUH has obtained good results.
Before treatment
After treatment