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Original ArticleOpen Access
Urea Cycle Disorders in Thai Infants : A Report of 5 Cases
Wasant P 
,
Srisomsap C ,
Liammongkolkul S ,
Svasti J
,
Srisomsap C ,
Liammongkolkul S ,
Svasti J CHANTRAGAN SRISOMSAP, Ph.D.**, _x000D_
JISNUSON SV ASTI, Ph.D.*** _x000D_
Urea Cycle Disorders (UCD) is an inborn error of urea synthesis in which ammonium and _x000D_
other nitrogenous precursors of urea accumulate leading to episodic coma and a high mortality rate. _x000D_
Therapy with peritoneal dialysis, essential amino acids or their nitrogen-free analogues has increased _x000D_
survival. The authors report 5 cases of urea cycle disorders, all of whom developed and were rescued _x000D_
from hyperammonemic coma. However, the eventual outcome was quite variable. _x000D_
Argininosuccinate lyase deficiency (ALD) Case 1. A 2 month old male infant, a product _x000D_
of a consanguineous marriage (Suphanburi province); developed poor feeding on day 7, lethargy, _x000D_
convulsion, hepatomegaly and respiratory alkalosis leading to respiratory failure and coma. Hyper- _x000D_
ammonemia, elevation of glutamic acid and argininosuccinic acid and its anhydrides confirmed the _x000D_
diagnosis of ALD. He is now 9 years old and severely retarded. Case 2. A male infant with history _x000D_
of lethargy, poor feeding on day 3, treated as sepsis and required respiratory support for 6 days; _x000D_
subsequently readmitted at age 2 weeks with vomitting, lethargy, seizure activity and hyperammo- _x000D_
nemia, and was treated by a local pediatrician in Songkhla province. There was a history of parental _x000D_
consanguinity and he was referred to Siriraj Hospital on day 64 with severe essential amino acid _x000D_
deficiency and acrodermatitis enteropathica with markedly elevated plasma citrulline level. In spite _x000D_
of aggressive treatment; the patient developed sepsis and he expired on day 78. _x000D_
Ornithine transcarbamylase deficiency (OTC) Case 3. An eleven-month-old male infant, _x000D_
the product of a non-consanguineous marriage, developed neonatal onset of hyperammonemia on _x000D_
day 5 after poor feeding, lethargy, hypothermia, seizure, apnea and coma. He was rescued from neo- _x000D_
natal hyperammonemic coma on day 9 after aggressive treatment, but expired at eleven months _x000D_
of age after overwhelming sepsis. Case 4. A male infant, sibling of case 3 was referred to Siriraj _x000D_
Hospital on day 8 with hyperammonemia and coma. In spite of intensive genetic counseling given _x000D_
after the birth of their first child with OTC, the couple chose to have another baby without informing _x000D_
any physician. The baby developed vomiting and lethargy on day 2; subsequently hyperammonemia _x000D_
was noted. In spite of aggressive treatment given; hepatic dysfunction, renal failure and dissemi- _x000D_
nated intravascular coagulation defects occurred on day 15. He expired on day 18 after parental _x000D_
permission for discontinuation of all treatment. _x000D_
Vol. 85 Suppl 2 _x000D_
UREA CYCLE DISORDERS IN THAI INFANTS : A REPORT OF _x000D_
5 _x000D_
CASES _x000D_
S721 _x000D_
Argininosuccinate synthetase deficiency (ASS) or Citrullinemia. Case 5. A seven week _x000D_
old female infant, the product of a consanguineous marriage and of Pakistani ethnic origin; deve- _x000D_
loped intermittent vomiting from day 6. Initial diagnoses included ruminations, sepsis and pyloric _x000D_
stenosis for which she was operated on (day 30); however, vomiting continued; subsequently seizures, _x000D_
hyperammonemic coma developed and she was rescued from hyperammonemic coma within 30 _x000D_
hours. Significant elevations of citrulline and L-glutamine were demonstrated. She was discharged _x000D_
in excellent condition to her home in Dubai, the United Arab Emirates. _x000D_
Key word : Urea Cycle Disorders, Hyperammonemia, ALD, OTC, ASS, Metabolic Encephalopathy
JISNUSON SV ASTI, Ph.D.*** _x000D_
Urea Cycle Disorders (UCD) is an inborn error of urea synthesis in which ammonium and _x000D_
other nitrogenous precursors of urea accumulate leading to episodic coma and a high mortality rate. _x000D_
Therapy with peritoneal dialysis, essential amino acids or their nitrogen-free analogues has increased _x000D_
survival. The authors report 5 cases of urea cycle disorders, all of whom developed and were rescued _x000D_
from hyperammonemic coma. However, the eventual outcome was quite variable. _x000D_
Argininosuccinate lyase deficiency (ALD) Case 1. A 2 month old male infant, a product _x000D_
of a consanguineous marriage (Suphanburi province); developed poor feeding on day 7, lethargy, _x000D_
convulsion, hepatomegaly and respiratory alkalosis leading to respiratory failure and coma. Hyper- _x000D_
ammonemia, elevation of glutamic acid and argininosuccinic acid and its anhydrides confirmed the _x000D_
diagnosis of ALD. He is now 9 years old and severely retarded. Case 2. A male infant with history _x000D_
of lethargy, poor feeding on day 3, treated as sepsis and required respiratory support for 6 days; _x000D_
subsequently readmitted at age 2 weeks with vomitting, lethargy, seizure activity and hyperammo- _x000D_
nemia, and was treated by a local pediatrician in Songkhla province. There was a history of parental _x000D_
consanguinity and he was referred to Siriraj Hospital on day 64 with severe essential amino acid _x000D_
deficiency and acrodermatitis enteropathica with markedly elevated plasma citrulline level. In spite _x000D_
of aggressive treatment; the patient developed sepsis and he expired on day 78. _x000D_
Ornithine transcarbamylase deficiency (OTC) Case 3. An eleven-month-old male infant, _x000D_
the product of a non-consanguineous marriage, developed neonatal onset of hyperammonemia on _x000D_
day 5 after poor feeding, lethargy, hypothermia, seizure, apnea and coma. He was rescued from neo- _x000D_
natal hyperammonemic coma on day 9 after aggressive treatment, but expired at eleven months _x000D_
of age after overwhelming sepsis. Case 4. A male infant, sibling of case 3 was referred to Siriraj _x000D_
Hospital on day 8 with hyperammonemia and coma. In spite of intensive genetic counseling given _x000D_
after the birth of their first child with OTC, the couple chose to have another baby without informing _x000D_
any physician. The baby developed vomiting and lethargy on day 2; subsequently hyperammonemia _x000D_
was noted. In spite of aggressive treatment given; hepatic dysfunction, renal failure and dissemi- _x000D_
nated intravascular coagulation defects occurred on day 15. He expired on day 18 after parental _x000D_
permission for discontinuation of all treatment. _x000D_
Vol. 85 Suppl 2 _x000D_
UREA CYCLE DISORDERS IN THAI INFANTS : A REPORT OF _x000D_
5 _x000D_
CASES _x000D_
S721 _x000D_
Argininosuccinate synthetase deficiency (ASS) or Citrullinemia. Case 5. A seven week _x000D_
old female infant, the product of a consanguineous marriage and of Pakistani ethnic origin; deve- _x000D_
loped intermittent vomiting from day 6. Initial diagnoses included ruminations, sepsis and pyloric _x000D_
stenosis for which she was operated on (day 30); however, vomiting continued; subsequently seizures, _x000D_
hyperammonemic coma developed and she was rescued from hyperammonemic coma within 30 _x000D_
hours. Significant elevations of citrulline and L-glutamine were demonstrated. She was discharged _x000D_
in excellent condition to her home in Dubai, the United Arab Emirates. _x000D_
Key word : Urea Cycle Disorders, Hyperammonemia, ALD, OTC, ASS, Metabolic Encephalopathy
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