Gaps in the newborn screening process: Using maple syrup urine disease as a case

Author: Mary Ann R. Abacan ^{1
,

2} ; Sylvia C. Estrada ^{1
,

2
,

3} ; Leniza G. de Castro-Hamoy ^{1
,

2} ; Mary Anne D. Chiong ^{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
3. Division of Endocrinology, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
Publication Type:Other Types
MeSH: Maple Syrup Urine Disease; Neonatal Screening
From: Acta Medica Philippina 2020;54(4):423-427
CountryPhilippines
Language:English
Abstract: Saving babies from mental retardation and death is the aim of the newborn screening program. A complex process of sample collection, processing and feedback is undertaken before reaching this goal. As with other systems, the newborn screening program is not perfect and periodic review is needed to continually improve services. Using maple syrup urine disease (which is the most common inborn error of metabolism detected through newborn screening) as an index case, this paper aims to present the gaps in diagnosis and management by citing cases and providing a commentary.
Full text:1927-Article Text-9544-1-10-20200827.pdf