Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
| Autor: | Yung-Hsiu Lu, An-Guor Wang, Fang-Chih Tsai, Dau-Ming Niu, Chih-Jou Lai, Shu-Chen Hsieh, Ping-Hsun Ho, Min-Chieh Lin, Ju-Shan Pai, Ming-Tzu Tsai, Ya-Chin Chuang, Ming-Che Lee, Han-Jui Lee, Ling-Yee Cheng, Chia-Feng Yang, Tzu-Hung Chu, Ting-Rong Hsu |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Pediatrics glutaric aciduria type 1 Genotype Population Taiwan Disease Glutaric aciduria type 1 03 medical and health sciences 0302 clinical medicine Atrophy Neonatal Screening medicine Humans optic atrophy Carnitine education Amino Acid Metabolism Inborn Errors Medicine(all) Newborn screening education.field_of_study lcsh:R5-920 Glutaryl-CoA Dehydrogenase business.industry newborn screening Brain Diseases Metabolic Incidence (epidemiology) Infant Newborn General Medicine medicine.disease Magnetic Resonance Imaging Surgery 030104 developmental biology Phenotype Organic acidemia Female business lcsh:Medicine (General) 030217 neurology & neurosurgery medicine.drug nystagmus |
| Zdroj: | Journal of the Chinese Medical Association, Vol 80, Iss 4, Pp 253-261 (2017) |
| ISSN: | 1726-4901 |
| DOI: | 10.1016/j.jcma.2016.07.006 |
| Popis: | Background Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date. Methods Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness. Clinical, laboratory, and neuroimaging data were analyzed. Results Fourteen newborns were diagnosed with GA-1 (incidence: 1/106,474). C5DC concentration was clearly increased after carnitine loading in the affected newborns, but not in false-positive newborns (p = 0.004), indicating that this test is useful as an adjuvant diagnostic method. Eleven patients followed in our hospital were enrolled, namely nine NBS patients and two patients diagnosed clinically. IVS10-2A>C was the most common mutation. Two novel mutations (T36fs and N291K) were identified. Pendular nystagmus was found in two pediatric GA-1 patients. The corresponding pathology was optic atrophy in one patient, but remained undetermined in the other patient. The frequency of encephalopathic crisis decreased substantially following NBS. Among patients diagnosed by NBS, cognitive functioning was better among patients with good compliance than patients with poor compliance (p = 0.03). Abnormalities were detected by brain MRI including diffusion-weighted imaging and apparent diffusion coefficient maps; these affected various brain regions at different stages of the disease. Basal ganglion injuries occurred after an encephalopathic crisis. White matter disease was prevalent among older patients, either with or without an encephalopathic crisis. Conclusion Early diagnosis by newborn screening followed by full compliance with treatment guidelines is important to a good outcome. |
| Databáze: | OpenAIRE |
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