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Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan

  • Original Article
  • Chapter
  • First Online:
JIMD Reports - Volume 11

Part of the book series: JIMD Reports ((JIMD,volume 11))

Abstract

Background: Fatty acid oxidation (FAO) disorders are a heterogeneous group of inborn errors in the transportation and oxidation of fatty acids. FAO disorders were thought to be very rare in the Chinese population. Newborn screening for FAO disorders beginning in 2002 in Taiwan may have increased the diagnosis of this group of diseases.

Materials and Methods: Till 2012, the National Taiwan University Hospital Newborn Screening Center screened more than 800,000 newborns for FAO disorders. Both patients diagnosed through screening and patients detected after clinical manifestations were included in this study.

Results: A total of 48 patients with FAO disorders were identified during the study period. The disorders included carnitine palmitoyltransferase I deficiency, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase II deficiency, very long-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short-chain defects, and carnitine uptake defect. Thirty-nine patients were diagnosed through newborn screening. Five false-negative newborn screening cases were noted during this period, and four patients who were not screened were diagnosed based on clinical manifestations. The ages of all patients ranged from 6 months to 22.9 years (mean age 6.6 years). Except for one case of postmortem diagnosis, there were no other mortalities.

Conclusions: The combined incidence of FAO disorders estimated by newborn screening in the Chinese population in Taiwan is 1 in 20,271 live births. Newborn screening also increases the awareness of FAO disorders and triggers clinical diagnoses of these diseases.

Competing interests: None declared

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Abbreviations

CACT:

Carnitine acylcarnitine translocase

CPT I:

Carnitine palmitoyltransferase 1

CPT II:

Carnitine palmitoyltransferase 2

CUD:

Systemic carnitine uptake defect

FAO:

Fatty acid oxidation

LCHAD/mTFP:

Long-chain 3-hydroxy acyl-CoA dehydrogenase/mitochondrial trifunctional protein

MAD deficiency/GA II:

Multiple acyl-CoA dehydrogenase deficiency/glutaric aciduria type II (synonym)

MCAD:

Medium-chain acyl-CoA dehydrogenase

MS/MS:

Tandem mass spectrometry

NBS:

Newborn screening

SCAD:

Short-chain acyl-CoA dehydrogenase

VLCAD:

Very-long-chain acyl-CoA dehydrogenase

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Acknowledgment

We thank Dr. Nicola Longo from the University of Utah for performing the mutation analysis for patients of CPT I deficiency and CPT II deficiency. This study was partially support by grants (DOH94-HP-2203, DOH95-HP-2207) from the Department of Health, Taiwan.

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Authors and Affiliations

  1. Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan

    Yin-Hsiu Chien, Ni-Chung Lee & Wuh-Liang Hwu

  2. Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan

    Mei-Chyn Chao

  3. Department of Genome Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan

    Mei-Chyn Chao

  4. Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

    Li-Chu Chen, Li-Hsin Chen & Chun-Ching Chien

  5. Taipei Institute of Pathology, Taipei, Taiwan

    Hui-Chen Ho & Jeng-Hung Suen

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  1. Yin-Hsiu Chien
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Correspondence to Wuh-Liang Hwu .

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Editors and Affiliations

  1. Medizinische Universität Innsbruck Sektionen für Humangenetik und Klinische, Innsbruck, Austria

    Johannes Zschocke

  2. Clinical Pharmacology Unit, Division of Health Sciences Washington State University, Spokane, Washington, USA

    K Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Department of Pediatrics IGMD, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

    Eva Morava

  5. Center for Child and Adolescent Medicine Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

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Communicated by: Jerry Vockley

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Chien, YH. et al. (2013). Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 11. JIMD Reports, vol 11. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_236

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  • DOI: https://doi.org/10.1007/8904_2013_236

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