Clinical and biochemical profiles of Filipino patients with distal urea cycle disorders detected by abnormal expanded newborn screening
https://doi.org/10.47895/amp.v54i4.1906
- Author:
Michelle E. Abadingo
1
,
2
;
Mary Ann R. Abacan
1
,
2
;
Mary Anne D. Chiong
1
,
2
;
Leniza G. De Castro-Hamoy
1
,
2
Author Information
1. Division of Clinical Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
2. Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila
- Publication Type:Journal Article
- Keywords:
Expanded newborn screening
- MeSH:
Citrullinemia;
Argininosuccinic Aciduria;
Argininosuccinic Acid
- From:
Acta Medica Philippina
2020;54(4):366-372
- CountryPhilippines
- Language:English
-
Abstract:
Objective:The study is a retrospective review which provides preliminary data on the correlation between biochemical profiles and initial clinical manifestation of patients diagnosed to have argininosuccinate synthetase deficiency (ASSD) and argininosuccinate lyase deficiency (ASLD) detected by expanded newborn screening (ENBS).
Methods:This is a study of five distal UCD patients initially detected by elevated citrulline on ENBS. Medical charts of the patients were reviewed. The initial clinical manifestations of the patients were correlated with results of biochemical tests.
Results:There were four cases of ASLD and one case of ASSD reviewed in this study. All cases of ASLD were confirmed by the presence of argininosuccinic acid (ASA) in the urine metabolic screen (UMS). The plasma citrulline level of the ASSD patient is significantly elevated as compared to the ASLD patients (2,690 µmol/L; NV: 10-45 µmol/L). The ASSD patient and one ASLD patient were symptomatic within the first six days of life. Both presented with significantly elevated plasma ammonia, citrulline and glutamine levels. Three ASLD patients were asymptomatic on initial screening.
Conclusion:ENBS has shown importance in the early detection and management of ASSD and ASLD. Early initiation of management may prevent hyperammonemic crises. Long term outcome studies are needed to look into the correlation of neurodevelopmental outcome with lifelong accumulation of citrulline and glutamine in ASSD and ASA in ASLD.
- Full text:1906-Article Text-9460-1-10-20200827.pdf
