Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses. In particular, since the only treatment for the...

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Bibliographic Details
Published in:International journal of neonatal screening 2021-08, Vol.7 (3), p.58
Main Authors: Shimozawa, Nobuyuki, Takashima, Shigeo, Kawai, Hiroki, Kubota, Kazuo, Sasai, Hideo, Orii, Kenji, Ogawa, Megumi, Ohnishi, Hidenori
Format: Article
Language:English
Subjects:
adrenoleukodystrophy
Biosynthesis
Chromatography
Congenital diseases
Dehydrogenases
Disease
Fatty acids
Genes
Genetic counseling
Mass spectrometry
Medical screening
Metabolism
Metabolites
Mutation
newborn screening
peroxisomal disorders
phytanic acid
plasmalogen
Proteins
Review
Scientific imaging
very-long-chain fatty acids
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Summary:We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses. In particular, since the only treatment for the cerebral form of ALD is hematopoietic stem cell transplantation at an early stage of onset, we have developed a protocol for the rapid diagnosis of ALD that can provide the measurements of the levels of very-long-chain fatty acids in the serum and genetic analysis within a few days. In addition, to improve the prognosis of patients with ALD, we are working on the detection of pre-symptomatic patients by familial analysis from the proband, and the introduction of newborn screening. In this review, we introduce the diagnostic and newborn screening approaches for ALD and PD in Japan.
ISSN:2409-515X
2409-515X
DOI:10.3390/ijns7030058