Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan
| Autor: | Shigeo Takashima, Hiroki Kawai, Nobuyuki Shimozawa, Kazuo Kubota, Kenji E. Orii, Megumi Ogawa, Hideo Sasai, Hidenori Ohnishi |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Proband
phytanic acid Pediatrics medicine.medical_specialty endocrine system congenital hereditary and neonatal diseases and abnormalities endocrine system diseases peroxisomal disorders medicine.medical_treatment Hematopoietic stem cell transplantation Review plasmalogen Diagnostic system RJ1-570 Immunology and Microbiology (miscellaneous) Peroxisomal disorder medicine very-long-chain fatty acids whole-exome sequencing Exome sequencing Newborn screening adrenoleukodystrophy business.industry newborn screening ABCD1 Obstetrics and Gynecology nutritional and metabolic diseases medicine.disease dried blood spot presymptomatic diagnosis Pediatrics Perinatology and Child Health Adrenoleukodystrophy business |
| Zdroj: | International Journal of Neonatal Screening, Vol 7, Iss 58, p 58 (2021) International Journal of Neonatal Screening |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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