Urea Cycle Disorders in Thai Infants : A Report of 5 Casest
PORNSWAN WASANT, M.D.*, CHANTRAGAN SRISOMSAP, Ph.D.**, SOMPORN LIAMMONGKOLKUL, M.Sc. *, JISNUSON SVA STI, Ph.D.***
Affiliation : * Genetics Unit, Department of Pediatrics," Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, ** Laboratory of Biochemistry, Chulabhom Research Institute, Bangkok 10210, *** Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10400, Thailand. t Presented at I. The 7'h International Congress on IEM, May 21-25, 1997, Vienna, Austria. 2. 5Q'h Thai Congress of Pediatrics, April 26-28, 2000, Pattaya, Chon Buri, Thailand.
Argininosuccinate lyase deficiency (ALD) Case 1. A 2 month old male infant, a product of a consanguineous marriage (Suphanburi province); developed poor feeding on day 7, lethargy, convulsion, hepatomegaly and respiratory alkalosis leading to respiratory failure and coma. Hyper ammonemia, elevation of glutamic acid and argininosuccinic acid and its anhydrides confirmed the diagnosis of ALD. He is now 9 years old and severely retarded. Case 2. A male infant with history of lethargy, poor feeding on day 3, treated as sepsis and required respiratory support for 6 days; subsequently readmitted at age 2 weeks with vomitting, lethargy, seizure activity and hyperammo nemia, and was treated by a local pediatrician in Songkhla province. There was a history of parental consanguinity and he was referred to Siriraj Hospital on day 64 with severe essential amino acid deficiency and acrodermatitis enteropathica with markedly elevated plasma citrulline level. In spite of aggressive treatment; the patient developed sepsis and he expired on day 78.
Ornithine transcarbamylase deficiency (OTC) Case 3. An eleven-month-old male infant, the product of a non-consanguineous marriage, developed neonatal onset of hyperammonemia on day 5 after poor feeding, lethargy, hypothermia, seizure, apnea and coma. He was rescued from neo natal hyperammonemic coma on day 9 after aggressive treatment, but expired at eleven months of age after overwhelming sepsis. Case 4. A male infant, sibling of case 3 was referred to Siriraj Hospital on day 8 with hyperammonemia and coma. In spite of intensive genetic counseling given after the birth of their first child with OTC, the couple chose to have another baby without informing any physician. The baby developed vomiting and lethargy on day 2; subsequently hyperammonemia was noted. In spite of aggressive treatment given; hepatic dysfunction, renal failure and dissemi nated intravascular coagulation defects occurred on day 15. He expired on day 18 after parental permission for discontinuation of all treatment.
Argininosuccinate synthetase deficiency (ASS) or Citrullinemia. Case 5. A seven week old female infant, the product of a consanguineous marriage and of Pakistani ethnic origin; deve loped intermittent vomiting from day 6. Initial diagnoses included ruminations, sepsis and pyloric stenosis for which she was operated on (day 30); however, vomiting continued; subsequently seizures, hyperammonemic coma developed and she was rescued from hyperammonemic coma within 30 hours. Significant elevations of citrulline and L-glutamine were demonstrated. She was discharged in excellent condition to her home in Dubai, the United Arab Emirates.
Keywords : Urea Cycle Disorders, Hyperammonemia, ALD, OTC, ASS, Metabolic Encephalopathy
