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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

Authors :
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
Source :
Molecular Genetics and Metabolism Reports, Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 5-10 (2018)
Publication Year :
2018
Publisher :
Elsevier, 2018.

Abstract

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

Subjects

Subjects :
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

Details

Language :
English
ISSN :
22144269
Volume :
16
Database :
OpenAIRE
Journal :
Molecular Genetics and Metabolism Reports
Accession number :
edsair.doi.dedup.....6c1e903da838e7af8e393c2d73bbb746