|
KMID : 0918520220220010009
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No. 1 p.9 ~ p.14
|
|
|
Glutaric Aciduria Type I: The Newborn Screening Program Changes the Outcomes of the Disease
|
|
Kim Su-Jin
|
|
|
Abstract
|
|
|
|
Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most com- mon form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.
|
|
|
KEYWORD
|
|
|
Glutaric aciduria type 1, Newborn screening, Glutaryl-CoA dehydrogenase, Inherited meta- bolic disease
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|