High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

Chen, Hui-An; Hsu, Ron Bin; Chen, Pin-Wen; Lee, Ni‐Chung; Chiu, Pao-Chin; Hwu, Wuh‐Liang; Chien, Yin‐Hsiu

doi:10.1016/j.ymgmr.2022.100902

Cited by 8 publications

(10 citation statements)

References 37 publications

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“… Lu 43 Case report 1 male child with lipoid CAH StAR heterozygous mutation (c.772C>T/c.562C>T) Phadte 44 3 Indian patients with P450 side-chain cleavage deficiency and AD 3 novel pathogenic CYP11A1 variants Homozygous p.Gly423Asp Heterozygous p.Arg151Trp/p.Pro104Ser Homozygous c.1351 C > T (p.Arg451Trp) Ali 45 Case report A 17-y-old male with AD since the age of 9 Tri-allelic heterozygous CYP11A1 mutation + digenic STAR loss-of-function variants: c.465+1G>A p.(E99K). Gupta 46 Pediatric male case report with X-linked adrenoleukodystrophy AD onset before cerebral involvement Wiersma 47 Case report 11-y-old boy with 1 DM + AD Confirmation of X-linked adrenoleukodystrophy Ghori 48 Case report A 20-y-old male with AD confirmed with ABCD1 mutation First case from Pakistan Dong 49 Case series (a 27-y-old, and a 31-y-old male) with ABCD1 variants 2 novel mutations: c.874_876delGAG (p.Glu292del) c.96_97delCT (p.Tyr33Profs*161) Chen 50 Longitudinal study Screening protocol at birth for ...…”

Section: Resultsmentioning

confidence: 99%

“…This study is part of the screening protocol at birth that has been added to a larger protocol concerning other peroxisomal diseases in Taiwan. 50 Similarly, a pilot Italian study was launched in 2021, also concerning NBS (newborn screening) of the same condition. The dramatic disease associates AD, adrenomyeloneuropathy and cerebral leukodystrophy (white matter progressive disease) requiring hematopoietic stem cell transplant for survival, thus the importance of early detection.…”

Section: Resultsmentioning

confidence: 99%

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Addison’s Disease: Diagnosis and Management Strategies

Cârșote¹,

Nistor²

2023

IJGM

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We aim to overview Addison’s disease (AD) with regard to current diagnosis and management. This is a narrative review of full-length articles published in English between January 2022 and December 2022 (including online ahead of print versions) in PubMed-indexed journals. We included original studies in living humans regardless of the level of statistical significance starting from the key search terms “Addison’s disease” or “primary adrenal insufficiency” in title or abstract. We excluded articles with secondary adrenal insufficiency. Briefly, 199 and 355 papers, respectively were identified; we manually checked each of them, excluded the duplicates, and then selected 129 based on their clinical relevance in order to address our 1-year analysis. We organized the data in different subsections covering all published aspects on the subject of AD. To our knowledge, this is the largest AD retrospective from 2022 on published data. A massive role of genetic diagnosis especially in pediatric cases is highlighted; the importance of both pediatric and adult awareness remains since unusual presentations continue to be described. COVID-19 infection is a strong player amid this third year of pandemic although we still not do have large cohorts in this particular matter as seen, for instance, in thyroid anomalies. In our opinion, the most important topic for research is immune checkpoint inhibitors, which cause a large panel of endocrine side effects, AD being one of them.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Addison’s Disease: Diagnosis and Management Strategies

Cârșote¹,

Nistor²

2023

IJGM

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“…In recent years, several countries including the United States, Taiwan and The Netherlands have incorporated ALD into their national newborn screening programme (NBS) and pilot studies are currently underway in Italy and Japan (Albersen et al, 2023; Bonaventura et al, 2022; Chen et al, 2022; Moser et al, 2016; Shimozawa et al, 2021). Families affected by ALD are supportive of including ALD within the NBS programme that would enable those at risk of disease to be identified and then screened prospectively so they can receive timely treatment (Schaller et al, 2007; Schwan et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy

Piercy,

Nutting

2023

Child

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BackgroundAdrenoleukodystrophy (ALD) is a rare X‐linked neurodegenerative disease, affecting the brain, spinal cord and adrenal cortex. Childhood cerebral ALD (CCALD) is the most severe form of disease, involving rapidly progressive neurological deterioration. The treatment option for CCALD is allogenic haemopoietic stem cell transplant, which is only successful for early‐stage disease. Parents' experiences of CCALD can inform healthcare delivery.Study aimTo detail the experiences of parents of children diagnosed with cerebral ALD.MethodsA descriptive qualitative study. Parents were recruited via a UK‐based community support organisation. Data collection involved single semi‐structured interviews structured around a topic guide and conducted remotely. Data were analysed using the thematic analysis approach.FindingsTwelve parents from 11 families with a total of 16 children with ALD contributed to the study. Their 16 children with ALD followed one of three disease pathways, determined by the extent of neurological damage at diagnosis. Three themes, and their respective sub themes, describe the pathways and what they meant for parents. ‘No possibility of treatment’ concerns situations when CCALD was diagnosed at an advanced stage, the landslide of deterioration parents witnessed and their efforts to maintain normality. ‘Close to the treatment threshold’ describes situations where a small treatment window required parents to make agonising treatment decisions. ‘Watching and waiting’ explains the challenges for parents when disease was detected early enabling children to benefit from timely treatment.DiscussionParents' experiences were largely defined by the extent of cerebral damage at diagnosis, which determined the availability and success of treatment. There were specific challenges related to the three situations, indicating areas where support from health and care services may help parents deal with this devastating diagnosis.ConclusionThis study indicates support needs of parents across the spectrum of CCALD diagnoses and highlights the critical importance of early diagnosis.

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“…19,20 At present, over 25 US states have added ALD to their screening program. 19,[21][22][23][24][25][26][27] Outside the US, Taiwan initiated ALD newborn screening in November 2016, 28 and a pilot is ongoing in Japan. 29 In 2015, the Health Council of the Netherlands advised the Ministry of Health, Welfare and Sport (VWS) to expand the Dutch newborn screening panel with 14 conditions, including ALD.…”

Section: Introductionmentioning

confidence: 99%

“… 19 , 20 At present, over 25 US states have added ALD to their screening program. 19 , 21 , 22 , 23 , 24 , 25 , 26 , 27 Outside the US, Taiwan initiated ALD newborn screening in November 2016, 28 and a pilot is ongoing in Japan. 29 …”

Section: Introductionmentioning

confidence: 99%

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Albersen

Beek

Dijkstra

et al. 2022

J of Inher Metab Disea

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Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very longchain fatty acids (VLCFA), including C26:0-lysophosphatidylcholine (C26:0-LPC). Newborn screening for ALD enables prospective monitoring and timely therapeutic intervention, thereby preventing irreversible damage and saving lives. The Dutch Health Council recommended to screen only male newborns for ALD without identifying untreatable conditions associated with elevated C26:0-LPC, like Zellweger spectrum disorders and single peroxisomal enzyme defects. Here, we Click here to access the podcast for this paper.

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High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

Cited by 8 publications

References 37 publications

Addison’s Disease: Diagnosis and Management Strategies

Addison’s Disease: Diagnosis and Management Strategies

The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

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