Urea cycle disorders in Thai infants: a report of 5 cases.

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dc.contributor.authorWasant, Pornswanen_US
dc.contributor.authorSrisomsap, Chantraganen_US
dc.contributor.authorLiammongkolkul, Sompornen_US
dc.contributor.authorSvasti, Jisnusonen_US
dc.date.accessioned2009-05-27T21:07:30Z
dc.date.available2009-05-27T21:07:30Z
dc.date.issued2002-08-31en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractUrea Cycle Disorders (UCD) is an inborn error of urea synthesis in which ammonium and other nitrogenous precursors of urea accumulate leading to episodic coma and a high mortality rate. Therapy with peritoneal dialysis, essential amino acids or their nitrogen-free analogues has increased survival. The authors report 5 cases of urea cycle disorders, all of whom developed and were rescued from hyperammonemic coma. However, the eventual outcome was quite variable. 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. Hyperammonemia, 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 hyperammonemia, 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 neonatal 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 disseminated 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; developed 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.en_US
dc.description.affiliationDepartment of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.en_US
dc.identifier.citationWasant P, Srisomsap C, Liammongkolkul S, Svasti J. Urea cycle disorders in Thai infants: a report of 5 cases. Journal of the Medical Association of Thailand. 2002 Aug; 85 Suppl 2(): S720-31en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/44237
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshArgininosuccinate Synthase --deficiencyen_US
dc.subject.meshBrain Diseases, Metabolic --diagnosisen_US
dc.subject.meshChild Development --physiologyen_US
dc.subject.meshFatal Outcomeen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshMetabolism, Inborn Errors --complicationsen_US
dc.subject.meshOrnithine Carbamoyltransferase --deficiencyen_US
dc.subject.meshPrognosisen_US
dc.subject.meshRisk Assessmenten_US
dc.subject.meshSeverity of Illness Indexen_US
dc.subject.meshThailanden_US
dc.subject.meshUrea --metabolismen_US
dc.titleUrea cycle disorders in Thai infants: a report of 5 cases.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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