Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
| Autor: | Georg F. Hoffmann, Takeshi Taketani, Naoaki Shibata, Dong Hwan Lee, Seiji Yamaguchi, Nguyen Ngoc Khanh, Toshiyuki Fukao, Yuki Hasegawa, Yosuke Shigematsu, Vu Chi Dung, Ishwar C. Verma, Dau-Ming Niu, Seiji Fukuda, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Sunita Bijarnia-Mahay, Kenji Yamada |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics MS/MS tandem mass spectrometry BKTD β-ketothiolase deficiency HMGS 3-hydroxy-3-methylglutaryl-CoA synthetase PPA propionic acidemia HAD 3-hydoxyacyl-CoA dehydrogenase Methylmalonic acidemia MMA methylmalonic acidemia TFP trifunctional protein SCAD short-chain acyl-CoA dehydrogenase Fatty acid oxidation disorder Expanded newborn screening NBS newborn screening Endocrinology ENBS expanded newborn screening Amino acid disorder PCD primary carnitine deficiency CTLN1 citrullinemia type I Propionic acidemia 4-OH-BA 4-hydroxybutyric acidemia lcsh:QH301-705.5 Beta oxidation HCU homocystinuria MCD multiple carboxylase deficiency lcsh:R5-920 GC/MS gas chromatography–mass spectrometry VLCAD very long-chain acyl-CoA dehydrogenase Incidence (epidemiology) IMD inherited metabolic disease GA2 glutaric acidemia type II ASA argininosuccinic aciduria HMGL 3-hydroxy-3-methylglutaryl-CoA lyase CPT2 carnitine palmitoyltransferase II Organic acidemia 2-OH-GA 2-hydroxyglutaric acidemia lcsh:Medicine (General) LCHAD long-chain 3-hydroxyacyl-CoA dehydrogenase Research Paper medicine.medical_specialty MGA 3-methylglutaconic aciduria PKU phenylketonuria AA amino acid disorder Incidence rate GA1 glutaric acidemia type I 03 medical and health sciences UCD urea cycle disorder Genetics medicine CPT1 carnitine palmitoyltransferase I Inherited metabolic disease FAOD fatty acid oxidation disorder Molecular Biology MSUD maple syrup urine disease Newborn screening business.industry Citrullinemia Maple syrup urine disease OA organic acidemia MCAD medium-chain acyl-CoA dehydrogenase medicine.disease 030104 developmental biology lcsh:Biology (General) MCCD 3-methylcrotonyl-CoA carboxylase deficiency OXPA 5-oxoprolinemia business CACT carnitine-acylcarnitine translocase |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 5-10 (2018) |
| ISSN: | 2214-4269 |
| Popis: | Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in many Asian countries. This study aimed to determine the incidence rates of OAs, FAODs, and AAs in Asian countries and Germany using selective screening and ENBS records. Materials and methods: Selective screening for IMDs using gas chromatography–mass spectrometry and MS/MS was performed among patients suspected to be afflicted in Asian countries (including Japan, Vietnam, China, and India) between 2000 and 2015, and the results from different countries were compared. Similarly, ENBS results from Japan, South Korea, Taiwan, and Germany were compared. Additionally, the results of selective screening and ENBS in Japan were compared. Results: Among 39,270 patients who underwent selective screening, IMDs were detected in 1170. Methylmalonic acidemia was frequently identified in several countries, including Japan (81/377 diagnosed IMDs), China (94/216 IMDs), and India (72/293 IMDs). In Vietnam, however, β-ketothiolase deficiency was particularly frequent (33/250 IMDs). ENBS yielded differences in overall IMD rates by country: 1:8557 in Japan, 1:7030 in Taiwan, 1:13,205 in South Korea, and 1:2200 in Germany. Frequently discovered diseases included propionic acidemia (PPA) and phenylketonuria (PKU) in Japan, 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) and PKU in Taiwan, MCCD and citrullinemia type I in South Korea, and PKU and medium-chain acyl-CoA dehydrogenase deficiency in Germany. Furthermore, in Japan, selective screening and ENBS yielded respective PPA frequencies of 14.7% and 49.4% among all organic acidemias. Conclusion: The incidence rates of IMDs vary by country. Moreover, the disease spectra of IMDs detected via selective screening differ from those detected via ENBS. Keywords: Organic acidemia, Fatty acid oxidation disorder, Amino acid disorder, Inherited metabolic disease, Expanded newborn screening, Incidence rate |
| Databáze: | OpenAIRE |
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