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

被引：12

作者：

Shimozawa, Nobuyuki ^{[1
,2
,3
]}

Takashima, Shigeo ^{[1
]}

Kawai, Hiroki ^{[1
,2
]}

Kubota, Kazuo ^{[2
,3
]}

Sasai, Hideo ^{[2
,3
]}

Orii, Kenji ^{[2
]}

Ogawa, Megumi ^{[4
]}

Ohnishi, Hidenori ^{[2
,3
]}

机构：

[1] Gifu Univ, Life Sci Res Ctr, Div Genom Res, Gifu 5011193, Japan

[2] Gifu Univ, Dept Pediat, Grad Sch Med, Gifu 5011194, Japan

[3] Gifu Univ Hosp, Clin Genet Ctr, Gifu 5011194, Japan

[4] Gifu Res Ctr Publ Hlth, Gifu 5008148, Japan

来源：

INTERNATIONAL JOURNAL OF NEONATAL SCREENING | 2021年 / 7卷 / 03期

关键词：

peroxisomal disorders; adrenoleukodystrophy; newborn screening; very-long-chain fatty acids; plasmalogen; phytanic acid; presymptomatic diagnosis; ABCD1; whole-exome sequencing; dried blood spot; X-LINKED ADRENOLEUKODYSTROPHY; SPECTROMETRY; ACID;

D O I：

10.3390/ijns7030058

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：9

共 33 条

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[33] Diagnostic determination system for high-risk screening for inborn errors of bile acid metabolism based on an analysis of urinary bile acids using gas chromatography-mass spectrometry: Results for 10 years in Japan (vol 51, pg 535, 2009)
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